摘要
Abstract Introduction: Living donor kidney transplantation is considered the ideal renal replacement therapy because it has a lower complication rate and allows an efficient response to the high demand for grafts in the healthcare system. Careful selection and adequate monitoring of donors is a key element in transplantation. Individuals at greater risk of developing kidney dysfunction after nephrectomy must be identified. Objective: To identify risk factors associated with a renal compensation rate (CR) below 70% 12 months after nephrectomy. Methods: This observational retrospective longitudinal study included living kidney donors followed up at the Lower Amazon Regional Hospital between 2016 and 2022. Data related to sociodemographic variables, comorbid conditions and kidney function parameters were collected. Results: The study enrolled 32 patients. Fourteen (43.75%) had a CR < 70% 12 months after kidney donation. Logistic regression found obesity (Odds Ratio [95%CI]: 10.6 [1.7-65.2]), albuminuria (Odds Ratio [95%CI]: 2.41 [1.2-4.84]) and proteinuria (Odds Ratio [95%CI]: 1.14 [1.03-1.25]) as risk factors. Glomerular filtration rate was a protective factor (Odds Ratio [95% CI]: 0.92 [0.85-0.99]). Conclusion: Obesity, albuminuria and proteinuria adversely affected short-term renal compensation rate. Further studies are needed to uncover the prognostic implications tied to these risk factors. Our findings also supported the need for careful individualized assessment of potential donors and closer monitoring of individuals at higher risk.
Resumo Introdução: O transplante de rim de doador vivo é considerado a terapia renal substitutiva ideal por oferecer menor taxa de complicações e possibilitar uma resposta eficiente à grande demanda por enxertos no sistema de saúde. A seleção criteriosa e o acompanhamento adequado dos doadores constituem um pilar fundamental dessa modalidade terapêutica, sendo essencial a identificação dos indivíduos em maior risco de disfunção renal pós-nefrectomia. Objetivo: Identificar fatores de risco para uma Taxa de Compensação (TC) da função renal inferior a 70% 12 meses após a nefrectomia. Métodos: Estudo observacional, retrospectivo e longitudinal conduzido com doadores de rim vivo acompanhados no Hospital Regional do Baixo Amazonas entre 2016 e 2022. Foram coletados dados correspondentes a variáveis sociodemográficas, comorbidades e parâmetros de função renal. Resultados: Foram incluídos 32 pacientes na amostra final. Destes, 14 (43,75%) obtiveram TC < 70% 12 meses após a doação. A regressão logística identificou a obesidade (Odds Ratio [IC95%]: 10.6 [1.7-65.2]), albuminúria (Odds Ratio [IC95%]: 2.41 [1.2-4.84]) e proteinúria (Odds Ratio [IC95%]: 1.14 [1.03-1.25]) como fatores de risco. A taxa de filtração glomerular atuou como fator de proteção (Odds Ratio [IC95%]: 0.92 [0.85-0.99]). Conclusão: Obesidade, albuminúria e proteinúria demonstraram impacto negativo na taxa de compensação renal em curto prazo, o que reitera a necessidade de estudos acerca das implicações prognósticas desses fatores. Além disso, reforça-se a necessidade de avaliação cuidadosa e individualizada dos possíveis doadores, com acompanhamento rigoroso, especialmente para indivíduos de maior risco.
摘要
INTRODUCTION: IgA nephropathy is the most common glomerulopathy in the world, it has a wide clinical expression, from asymptomatic to rapidly progressive glomerulonephritis. The definitive diagnosis is renal biopsy, within which the IgA pattern can be identified, including thrombotic microangiopathy. CLINICAL CASE: 28-year-old female patient, with a history of preeclampsia in the last pregnancy, presents high blood pressure, hematuria and proteinuria. Study begins with initially negative results. Renal biopsy confirms IgA nephropathy with thrombotic microangiopathy. DISCUSSION: Vascular damage is underestimated in IgA nephropathy. Thrombotic microangiopathy can be associated with various clinical manifestations, however when it is associated with IgA Nephropathy it is usually associated with proteinuria, arterial hypertension and elevation of creatinine. In the presence of microangiopathy, secondary causes must be ruled out. In general, there is no pathognomonic serological marker. Eventually patients could benefit from the use of eculizumab. CONCLUSION: IgA nephropathy is the most common glomerulopathy worldwide; there is a wide range of clinical presentations, among which thrombotic microangiopathy can be found. This presentation is associated with a higher risk of progression to end-stage renal disease.
INTRODUCCIÓN: La nefropatía por IgA es la glomerulopatía más frecuente en el mundo, tiene una amplia expresión clínica, desde asintomática hasta glomerulonefritis rápidamente progresivas. El diagnóstico definitivo es la biopsia renal, dentro de las cuales se puede identificar el patrón de la IgA, dentro de los cuales está la microangiopatía trombótica. CASO CLÍNICO: Paciente femenina 28 años, con antecedentes de preeclampsia en último embarazo, presenta hipertensión arterial, hematuria y proteinuria. Se inicia estudio con resultados inicialmente negativos. Biopsia renal confirma nefropatía por IgA con microangiopatía trombótica. DISCUSIÓN: En la nefropatía por IgA se subestima el daño vascular. La microangiopatía trombótica se puede asociar con varias manifestaciones clínicas, sin embargo, cuando está asociada a NIgA suele estar asociado con proteinuria, hipertensión arterial y elevación y creatinina. Ante la presencia de microangiopatía, se deben descartar causas secundarias de la misma. En general no existe un marcador serológico patognomónico. Eventualmente los pacientes se podrían beneficiar del uso de eculizumab. CONCLUSIÓN: La nefropatía por IgA es la glomerulopatía más frecuente a nivel mundial, existe una gran gama de presentaciones clínicas, dentro de las cuales se puede encontrar microangiopatía trombótica. Esta última presentación se asocia con mayor riesgo de progresión a enfermedad renal en etapa terminal.
Subject(s)
Humans , Female , Adult , Blood Vessels/pathology , Thrombotic Microangiopathies/epidemiology , Glomerulonephritis, IGA/epidemiology , Kidney/pathology , Immunohistochemistry , Prevalence , Thrombotic Microangiopathies/etiology , Thrombotic Microangiopathies/pathology , Glomerulonephritis, IGA/complications , Glomerulonephritis, IGA/pathology , Hypertension/complications摘要
RESUMEN Paciente primigesta de 27 años, sin antecedentes médicos de importancia y con un apropiado control prenatal, quien recibió atención por parto vaginal a las 39 semanas de gestación con anestesia epidural. Una hora después del parto, presentó cefalea holocraneana a predominio derecho, tratada con antiinflamatorios y relajantes muscular por indicación del servicio de neurología. Horas después de su alta, al tercer día posparto, presentó convulsiones tónico-clónicas bilaterales. Por un examen de orina con proteinuria (+) en tira reactiva y elevaciones discretas de la presión arterial, se solicitó un conteo de proteínas en 24 horas, con valores en 1094,5 mg (valor normal: 0-140). La resonancia magnética con contraste solicitada durante su admisión fue normal, recibiendo tratamiento con fenitoína y sulfato de magnesio durante su hospitalización. Fue dada de alta al quinto día, con controles posteriores por consultorio externo, sin cefalea, proteinuria y/o hipertensión.
ABSTRACT A 27-year-old primigravida patient without a relevant medical history and appropriate prenatal control received attention for vaginal delivery at 39 weeks of gestation. One -hour later, she experienced holocranial headache with right predominance, treated with anti-inflammatories and muscle relaxants by the indication of a neurologist. Hours after her discharge, on the third day post-partum, she developed bilateral tonic-clonic seizures.. Following a urine test in the emergency room with proteinuria (+) in a dipstick, we tested 24-hour protein count in 1094 mg (normal values 0-140). Magnetic resonance with contrast at admission was normal. She received Phenytoin and Magnesium Sulfate during her hospitalization. The evolution was favorable, and he was discharged at five days with ambulatory controls in the medical office without headache, proteinuria, and/or hypertension.
摘要
This article reported the diagnosis and treatment of a boy with Dent disease presenting with massive proteinuria.He was 3 years old and found to have massive proteinuria during routine physical examination without hypoalbuminemia, urine protein electrophoresis indicated mainly low molecular weight proteins, with hypercalciuria, and metabolic acidosis, no diabetes, no amino acid urine, and renal ultrasound showed no renal calcium deposition, He had no mental and physical developmental delay and no abnormal family history. Gene detection revealed one missense mutation in exon 15 of the OCRL1 gene, c.1477C > T (p.Arg493Trp). After the diagnosis was confirmed, restrictions in dietary intake of calcium, sodium, and oxalate was restricted and oral potassium citrate and hydrochlorothiazide was prescribed. During two months of follow-up, we observed a decrease in urinary calcium levels and normal renal function. This article aims to improve the understanding of this disease among physicians and provide reference for the diagnosis and treatment of this disease through typical case report and review of previous literatures.
摘要
Bartter syndrome (BS, OMIM #601678) is a rare inherited salt-losing tubulopathy characterized by hypokalemia metabolic alkalosis with secondary renin-angiotensin-aldosterone system activation. As reported, BS type 1 is generally presented prenatal and neonatal period, and symptoms usually appear before and after birth or in infancy, accompanied by severe salt loss, whilst kidney function remains mostly normal. In this study, we report a case of BS type 1 with childhood onset and proteinuria and renal impairment. The child was born preterm due to hyperamniotic fluid, but there were no apparent symptoms after birth until the age of 3 when the child began to present with polydipsia, polyuria and increased nocturnal uria. At the age of 5, she had elevated serum creatinine level and proteinuria. After admission, she was diagnosed with chronic tubulointerstitial disease and stage 2 chronic kidney disease(CKD). According to the chloride clearance test, the abnormal function of medullary thick ascending limb Henle′s loop, was confirmed and BS type 1 was diagnosed by gene sequencing. After active management of complications, kidney function of the child improved. In the long-term follow-up, the urinary protein amount of the child still increased, eGFR slowly decreased, and the child was currently in the CKD2 stage. Children with prenatal BS may not present typical clinical manifestations immediately after birth until the onset of relevant clinical symptoms in childhood. BS type 1 patients may have renal impairment, which needs to be identified in time. Clinical differentiation diagnosis between BS and Gitelman syndrome can be made by chloride clearance tests. Early diagnosis and treatment are critical to improve prognosis.
摘要
Steroid-resistant nephrotic syndrome (SRNS) is the second cause of chronic kidney disease in children. The SRNS has high risk of rapid progression to end-stage renal disease. With the advancement of high-throughput sequencing technology, more than 70 monogenic mutation having the Mendelian inheritance patterns are identified to be associated with SRNS. Most of these genes are involved in podocyte function. Accurate diagnosis of monogenic mutation in SRNS patients helps with guiding clinical treatment protocols and genetic counseling, avoiding the excessive use of steroids/immunosuppressive therapy, and opening up possibilities for targeted therapies in SRNS patients. In this article, our research team summarizes and generalizes the molecular mechanisms, genetic testing, and specific treatment for the major types of monogenic mutations associated with SRNS.
摘要
Diabetic nephropathy (DN) is a common microvascular complication of diabetes mellitus. Cardiovascular disease often occurs in patients with DN. Patients with DN often experience changes in cardiac structure and function as proteinuria increases, glomerular filtration rate decreases, and blood creatinine levels increase, leading to the occurrence of cardiovascular disease. Additionally, inflammatory factors play a crucial role in cardiac structure and function. Understanding the pathological and physiological effects of inflammation on diabetic nephropathy-related cardiovascular disease and clarifying the relationship between cardiac structure and function in patients with DN are crucial for effective prevention and treatment of DN.
摘要
Objective:To investigate the clinicopathological features and the prognosis of IgA nephropathy (IgAN) in children with massive proteinuria.Methods:It was a retrospective cohort study. Clinical data of IgAN children with massive proteinuria admitted to the Department of Nephrology, Children's Hospital Affiliated to Capital Institute of Pediatrics from January 2008 to December 2021 were retrospectively analyzed. Patients were divided into effective group and ineffective group according to whether urine protein turned negative after 6 months of initial treatment. The follow-up endpoint event was defined as a reduction in proteinuria of less than 50% or end-stage renal disease (ESRD) achievement. MedCalc software was used to perform Kaplan-Meier survival analysis, and Log-rank test was used to compare the difference of renal survival between the two groups.Results:A total of 127 patients were diagnosed as primary IgAN by renal biopsy, of whom 57 patients with IgAN showed massive proteinuria. These 57 IgAN patients with macroproteinuria accounted for 44.9% of the total IgAN patients and were enrolled in the study. Among the 57 cases, 33 cases (57.9%) were Lee's grade Ⅲ, 11 cases (19.3%) were below Lee's grade Ⅲ, and 13 cases (22.8%) were above Lee's grade Ⅲ. The follow-up time was 4.0 (3.0,5.8) years. In the initial treatment, among 57 patients, 46 (80.7%) were effective (effective group) and 11 (19.3%) were ineffective (ineffective group). Compared with the effective group, the ineffective group had a higher proportion of concurrent AKI at the onset of disease and longer recovery time of renal function, with significant difference (7/11 vs. 13/46, χ2=4.878, P=0.027). Compared with the effective group, the proportion of Lee grade Ⅲ or above was higher in the ineffective group, and the difference was statistically significant (5/11 vs. 8/46, χ2=3.971, P=0.046). There were significant differences in endocapillary hypercellularity (E1), segmental glomerulosclerosis or adhesion (S1) and cellular/fibrocellular crescents (C2) of Oxford classification between IgAN children with Lee grade Ⅲ or below and those over Lee grade Ⅲ (11/13 vs. 20/44, χ2=6.204, P=0.013; 12/13 vs. 17/44, χ2=11.566, P=0.001; 9/13 vs. 7/44, χ2=14.131, P=0.001). Among 57 patients, endpoint events occurred in 2 patients who both were urinary protein unmitigated, and none of the children progressed to ESRD. There was no significant difference in cumulative renal survival between the two groups by Kaplan-Meier survival analysis and Log-rank test ( χ2=0.537, P=0.460) after addition of calcineurin inhibitors (CNIs) to the initial treatment ineffective group. Conclusions:Macroproteinuria is the prominent manifestation of IgAN in children. The pathological type is mainly Lee grade Ⅲ. Children with macroproteinuria have a good prognosis in the short and medium term after active treatment. For IgAN with macroproteinuria that does not respond well to initial treatment, AKI is more common at onset, and renal function recovery time is longer. The application of CNIs may have a certain effect on improving the renal outcome of IgAN with massive proteinuria.
摘要
This article reported the diagnosis and treatment of a boy with Dent disease presenting with massive proteinuria.He was 3 years old and found to have massive proteinuria during routine physical examination without hypoalbuminemia, urine protein electrophoresis indicated mainly low molecular weight proteins, with hypercalciuria, and metabolic acidosis, no diabetes, no amino acid urine, and renal ultrasound showed no renal calcium deposition, He had no mental and physical developmental delay and no abnormal family history. Gene detection revealed one missense mutation in exon 15 of the OCRL1 gene, c.1477C > T (p.Arg493Trp). After the diagnosis was confirmed, restrictions in dietary intake of calcium, sodium, and oxalate was restricted and oral potassium citrate and hydrochlorothiazide was prescribed. During two months of follow-up, we observed a decrease in urinary calcium levels and normal renal function. This article aims to improve the understanding of this disease among physicians and provide reference for the diagnosis and treatment of this disease through typical case report and review of previous literatures.
摘要
Bartter syndrome (BS, OMIM #601678) is a rare inherited salt-losing tubulopathy characterized by hypokalemia metabolic alkalosis with secondary renin-angiotensin-aldosterone system activation. As reported, BS type 1 is generally presented prenatal and neonatal period, and symptoms usually appear before and after birth or in infancy, accompanied by severe salt loss, whilst kidney function remains mostly normal. In this study, we report a case of BS type 1 with childhood onset and proteinuria and renal impairment. The child was born preterm due to hyperamniotic fluid, but there were no apparent symptoms after birth until the age of 3 when the child began to present with polydipsia, polyuria and increased nocturnal uria. At the age of 5, she had elevated serum creatinine level and proteinuria. After admission, she was diagnosed with chronic tubulointerstitial disease and stage 2 chronic kidney disease(CKD). According to the chloride clearance test, the abnormal function of medullary thick ascending limb Henle′s loop, was confirmed and BS type 1 was diagnosed by gene sequencing. After active management of complications, kidney function of the child improved. In the long-term follow-up, the urinary protein amount of the child still increased, eGFR slowly decreased, and the child was currently in the CKD2 stage. Children with prenatal BS may not present typical clinical manifestations immediately after birth until the onset of relevant clinical symptoms in childhood. BS type 1 patients may have renal impairment, which needs to be identified in time. Clinical differentiation diagnosis between BS and Gitelman syndrome can be made by chloride clearance tests. Early diagnosis and treatment are critical to improve prognosis.
摘要
Steroid-resistant nephrotic syndrome (SRNS) is the second cause of chronic kidney disease in children. The SRNS has high risk of rapid progression to end-stage renal disease. With the advancement of high-throughput sequencing technology, more than 70 monogenic mutation having the Mendelian inheritance patterns are identified to be associated with SRNS. Most of these genes are involved in podocyte function. Accurate diagnosis of monogenic mutation in SRNS patients helps with guiding clinical treatment protocols and genetic counseling, avoiding the excessive use of steroids/immunosuppressive therapy, and opening up possibilities for targeted therapies in SRNS patients. In this article, our research team summarizes and generalizes the molecular mechanisms, genetic testing, and specific treatment for the major types of monogenic mutations associated with SRNS.
摘要
Professor TANG Shui-Fu believes that the development of renal proteinuria in chronic kidney disease is due to the deficiency of spleen and kidney,which leads to the malfunction in lifting lucid yang and lowering turbid yin of the body and the internal retention of turbid-toxin.The early stage of renal proteinuria is mainly induced by qi deficiency of spleen and kidney,and the middle and late stage of renal proteinuria results from the long-lasting spleen and kidney deficiency together with damp-toxin accumulation and is characterized by the mixture of healthy-qi deficiency and pathogenic-qi excess.Aimed at the key pathogenesis of the dysfunction of ascending and descending of qi movement,Professor TANG Shui-Fu treated the renal proteinuria with the principal method of strengthening the spleen and tonifying the kidney,combined with method of eliminating dampness,draining turbidity and dissolving stasis targeted at the pathogenic-qi excess of damp-turbidity and stasis-toxin diffusing in the triple energizer.Meanwhile,the use of the method of replenishing and elevating Qi for regulating the qi movement of the spleen and kidney was stressed.In the early stage of renal proteinuria,the Chinese medicines with the actions of promoting the lifting of lucid yang such as Cimicifugae Rhizoma and Bupleuri Radix were added on the basis of herbs for strengthening the spleen and benefiting the kidney,so that the essence can be consolidated and proteinuria can be eliminated.In the middle and late stage of renal proteinuria,the course of the disease lasted a long time,and the internal attack of the pathogens caused the reversal and chaos of the lucid yang and turbid yin.In this case,treatment should follow the principal method of lowering turbid yin and by the assistance of the herbs for replenishing and elevating qi such as Astragali Radix,Atractylodis Macrocephalae Rhizoma,Poria,Dioscoreae Rhizoma,Cimicifugae Rhizoma,and Bupleuri Radix,so that the ascending and descending of qi movement can be coordinated,the lucid yang is raised and turbid yin is directed downward,the renal function is protected and the progression of chronic kidney disease is slowed down.
摘要
Resumen Los objetivos del trabajo fueron evaluar el desempeño del analizador de orinas Laura XL® Erba Mannhein, por comparación con el analizador iRICELL® Beckman Coulter y valorar la determinación de proteínas urinarias semicuantitativas como tamizaje en su estudio, con el establecimiento de un punto de corte para su cuantificación. Se emplearon 225 muestras de orina procesadas en simultáneo. Se evaluó pH, densidad, turbidez, color, hemoglobina, glucosa, cetonas, nitritos, proteínas, número de tiras reactivas positivas; células epiteliales, leucocitos, hematíes y criterio de normalidad del sedimento por microscopía. Se cuantificaron las proteínas urinarias positivas por tiras en un Modular COBAS® 8000 (Hitachi-Roche). Se empleó el coeficiente de concordancia Kappa de Cohen (k) y el índice de correlación de Spearman. Se obtuvo escasa concordancia en turbidez (k=0,334), buena concordancia en color (k=0,681), hemoglobina (k=0,620), glucosa (k=0,677), cetonas (k=0,768), nitritos (k=0,827), tiras reactivas positivas (k=0,620), células epiteliales (k=0,783), leucocitos (k=0,745) y hematíes (k=0,609); muy buena concordancia en proteínas (k=0,842) y criterio de normalidad del sedimento (k=1,000). Correlación estadísticamente significativa en pH (r=0,8064; p<0,0001), densidad (r=1,000; p<0,0001) y proteína urinaria (rs=0,9157; p<0,0001) comparada con COBAS® 8000. Se concluyó un desempeño satisfactorio de Laura XL®; se muestra un rendimiento acorde a las necesidades y normativas de este laboratorio y se avala su utilidad como test de tamizaje para la valoración de proteínas urinarias. Se estableció, además, la cuantificación de orinas que presentaron 1+ o más por tira en Laura XL®. Se consideró realizar mejoras en el software.
Abstract The objectives of this work were to evaluate the performance of the Laura XL® Erba Mannheim urine analyzer, in comparison with the iRICELL® Beckman Coulter analyzer, and to assess the determination of semiquantitative urinary protein as screening in its study, establishing a cut-off point for its quantification. A total of 225 urine samples were simultaneously processed. pH, density, turbidity, colour, hemoglobin, glucose, ketones, nitrites, proteins, and number of positive reactive strips were evaluated; and epithelial cells, leukocytes, red blood cells and criteria for normality of the sediment were evaluated by microscopy. Positive urinary proteins per strip were quantified on a Modular COBAS® 8000 (Hitachi-Roche). Cohen's Kappa concordance coefficient (k) and Spearman's correlation index were used. Little agreement was obtained in turbidity (k=0.334), good agreement in colour (k=0.681), hemoglobin (k=0.620), glucose (k=0.677), ketones (k=0.768), nitrites (k=0.827), positive test strips (k=0.620), epithelial cells (k=0.783), leukocytes (k=0.745) and red blood cells (k=0.609); very good agreement for proteins (k=0.842) and sediment normality criteria (k=1,000). Statistically significant correlation in pH (r=0.8064; p<0.0001), density (r=1.000; p<0.0001), urinary protein (rs=0.9157; p<0.0001) compared with COBAS® 8000. A satisfactory performance of Laura XL® was concluded, showing a performance consistent with the needs and regulations of this institution, and its usefulness is endorsed as a screening test for the assessment of urinary proteins, establishing the quantification of urines that present 1+ or more per strip in Laura XL®. Software improvements are considered.
Resumo Os objetivos do trabalho foram avaliar o desempenho do analisador de urina Laura XL® Erba Mannheim, em comparação com o analisador iRICELL® Beckman Coulter, e avaliar a determinação de proteínas urinárias semiquantitativa como triagem em seu estudo, estabelecendo um ponto de corte para sua quantificação. Foram utilizadas 225 amostras de urina processadas simultaneamente. Foram avaliados pH, densidade, turbidez, cor, hemoglobina, glicose, cetonas, nitritos, proteínas, número de testes reativos positivos; células epiteliais, leucócitos, hemácias e critérios de normalidade do sedimento à microscopia. As proteínas urinárias positivas por teste foram quantificadas em um Modular COBAS® 8000 (Hitachi-Roche). Foram utilizados o coeficiente de concordância Kappa de Cohen (k) e o índice de correlação de Spearman. Escassa concordância foi obtida em turbidez (k=0,334), boa concordância em cor (k=0,681), hemoglobina (k=0,620), glicose (k=0,677), cetonas (k=0,768), nitritos (k=0,827), testes reativos positivos (k=0,620), células epiteliais (k=0,783), leucócitos (k=0,745) e hemácias (k=0,609); concordância muito boa para proteínas (k=0,842) e critérios de normalidade do sedimento (k=1,000). Correlação estatisticamente significativa em pH (r=0,8064 p<0,0001), densidade (r=1,000 p<0,0001), proteína urinária (rs=0,9157 p<0,0001) em comparação com COBAS® 8000. A conclusão é um desempenho satisfatório de Laura XL®, mostrando um rendimento consistente com as necessidades e normas deste laboratorio e sua utilidade é endossada como teste de triagem para avaliação de proteínas urinárias, estabelecendo também a quantificação de urinas que apresentaram 1+ ou mais por teste em Laura XL®. Melhorias no software são consideradas.
摘要
Introduction: Imerslund-Gräsbeck syndrome (IGS) is a rare congenital disorder characterized by decreased vitamin B12, megaloblastic anemia, and proteinuria. Clinical case: A 58-year-old woman with four episodes of generalized tonic movements whose paraclinical findings showed cyanocobalamin deficiency. The presence of gait disturbances and constitutional syndrome was reported upon questioning, which required further investigation. The extension tests confirmed type 1 IGS, so it was decided to continue the cyanocobalamin management and nutrition evaluation, with which an adequate evolution was achieved. The patient was eventually discharged. Conclusion: This pathology is low prevalence and mainly affects the first decade of life. It prefers the female sex and is characterized by a decrease in vitamin B12, which can predispose to other disorders such as ataxia and growth retardation.
Introducción: el síndrome de Imerslund-Gräsbeck es un trastorno congénito infrecuente caracterizado por disminución de la vitamina B12, anemia megaloblástica y proteinuria. Caso clínico: mujer de 58 años de edad con cuatro episodios de movimientos tónicos generalizados cuyos paraclínicos mostraban deficiencia de cianocobalamina, por lo que en el interrogatorio se reportaba la presencia de alteraciones en la marcha y síndrome constitucional que requería ampliar los estudios. Los exámenes de extensión confirmaron el síndrome de Imerslund-Gräsbeck tipo 1, de modo que se decidió continuar el manejo con cianocobalamina y valoración con nutrición, con lo que se obtuvo una adecuada evolución y se decidió dar egreso a la paciente. Conclusión: esta patología tiene una baja prevalencia y afecta principalmente a la primera década de la vida, tiene predilección por el sexo femenino y se caracteriza por una disminución de la vitamina B12, que puede predisponer a otras alteraciones como ataxia y retraso en el crecimiento.
摘要
Introducción: la proteinuria en la edad pediátrica es una entidad relativamente frecuente, la cual puede ser fisiológica o patológica. La segunda, por una alteración a nivel glomerular con pérdida de proteínas de gran tamaño o a nivel tubular, caracterizada por pérdida de proteínas de bajo peso molecular y alteraciones en la excreción de iones. Entre las enfermedades hereditarias que cursan con proteinuria tubular, se ha descrito la enfermedad de Dent, una patología ligada al cromosoma X. Esta enfermedad se manifiesta principalmente en varones, pero las mujeres pueden ser portadoras y tener manifestaciones clínicas leves de la enfermedad. La primera descripción de esta enfermedad fue hecha por Dent y Friedman en 1964. La mayoría de los casos recientemente reportados han sido en China y Alemania. Objetivo: realizar una revisión general de la enfermedad de Dent y del enfoque diagnóstico de la proteinuria en la infancia con base en nuestro caso, para así, sospechar de esta enfermedad. Descripción del caso: se presenta el caso de un paciente masculino sin antecedentes prenatales ni personales de importancia, quien presenta proteinuria persistente desde los primeros meses de vida y a quien, a los 7 años de edad, se le documenta la presencia de una variante ya conocida en el gen CLCN5, causante de la enfermedad de Dent tipo 1. Discusión: la proteinuria persistente patológica en la infancia debe ser estudiada debido a su posible relación con patologías que pueden afectar la función renal. Además de la diferenciación de la proteinuria persistente, de origen glomerular y tubular, la evaluación de alteraciones en la excreción de electrolitos, puede guiarnos hacia la realización de estudios genéticos y, por ende, al diagnóstico de patologías infrecuentes como la enfermedad de Dent. Conclusión: el enfoque diagnóstico de causas poco frecuentes de proteinuria tubular en la infancia, como la enfermedad de Dent, requiere de la valoración conjunta entre nefrología pediátrica y genética clínica.
Background: In pediatric patients, proteinuria is a relatively frequent entity that can be physiological or pathological. The second one, due to an alteration at the glomerular level with the loss of large proteins or at the tubular level, characterized mainly by the loss of low molecular weight proteins and changes in the excretion of ions. Among the hereditary diseases that present with tubular proteinuria, Dent disease is a disease linked to the X chromosome. Therefore, it manifests essentially in males, but women can be carriers and have minor clinical manifestations of the disease. Dent and Friedman made the first description of this disease in 1964. Recently, most of the cases have been reported in China and Germany. Objective: To perform a revision of Dent disease, as well as the diagnostic approach of childhood proteinuria based in our case in order to suspect this disease. Case description: This is the case of a masculine patient, without relevant prenatal and personal antecedents, the son of a father with polycystic renal disease, who presents persistent proteinuria from the first months of life, and who, at seven years old, the presence of a variant in the CLCN5 gene -causing of type 1 Dent disease- was documented. Discussion: The persistent pathological proteinuria in childhood must be studied due to its possible relation with pathologies that could affect renal function. Moreover, the differentiation among glomerular and tubular proteinuria can guide us to perform additional studies, including genetic tests to diagnose infrequent pathologies like Dent disease. Conclusion: The diagnostic approach to rare causes of tubular proteinuria in childhood, such as Dent's disease, requires joint assessment between pediatric nephrology and clinical genetics.
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Introduction:Metabolic syndrome (MetS) predicts cardiovascular disease, and patients with this condition and type 2 diabetes have increased albuminuria, significantly impacting cardiovascular mortality and kidney disease progression. A considerable number of interventions to control MetS exist and are considered efficient, including the use of medication and changes in lifestyle. However, which approaches are effective in controlling albuminuria remains unclear. This systematic review protocol aims to map in the available literature whether lifestyle, medication, and surgical intervention for MetS have an impact on reducing albuminuria in adult patients. Methods: The Joanna Briggs Institute methodology for systematic reviews will be followed. Cochrane Database of Systematic Reviews, Scopus, Embase, and MEDLINE/PubMed databases will be used. For the Gray Literature, the DART-Europe E-theses Portal. There will be no language restriction. Studies written after 2009 will be included due to the consensus and definition of metabolic syndrome. This review will include studies considering pharmacological and non-pharmacological treatments for controlling albuminuria in patients with MetS. Studies where MetS is described in children and adolescents, animals, pregnant women, and patients with type 1 diabetes will be excluded. First, the selection will be based on reading the title and summary of the texts retrieved in the search strategy, followed by reading the relevant texts in full by two reviewers. After the selection of the studies, the extraction of the data, analysis, and synthesis will be conducted according to the JBI methodology
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Humans , Adult , Middle Aged , Proteinuria , Therapeutics , Metabolic Syndrome , Life Style , Cardiovascular Diseases/metabolism , Exercise , MEDLINE , PubMed , Diet摘要
ABSTRACT Introduction: The albumin-to-creatinine ratio and total protein-to-creatinine ratio in spot urine samples have already been validated as surrogates for 24-hour albuminuria and proteinuria measurements. Thus, we hypothesized that the type of proteinuria, detected by the electrophoretic pattern of 24-hour urine, could be predicted by the simple proportion of albumin in the total urine protein content, using the albumin-to-protein ratio (APR). Our study sought to validate the use of APR as a cheaper substitute for urinary protein electrophoresis (UPE). Methods: Using different mathematical models, we compared, the albumin fraction in 24-hour urine samples by electrophoresis and the APR ratio in spot samples from 42 outpatients with chronic kidney disease (CKD). Results: A strong log-order correlation r = 0.84 (0.75-0.92; 95% CI, p = 0.001) was observed between APR and the albumin fraction in the UPE. Conclusion: The APR can substitute electrophoresis in CKD outpatients.
Resumo Introdução: A utilização da razão albumina/creatinina e da razão proteína total/creatinina em amostras isoladas de urina já foram validadas como substitutos para a albuminúria e proteinúria em 24 horas. Assim, nossa hipótese é que o tipo de proteinúria, dado pelo padrão eletroforético da urina de 24 horas, poderia ser previsto pela simples proporção de albumina no conteúdo total de proteínas na urina, utilizando a razão albumina/proteína (RAP). O presente estudo procurou validar o uso da RAP como um substituto mais prático e de menor custo da eletroforese de proteínas urinárias (EPU). Métodos: Foram utilizados diferentes modelos matemáticos a fim de comparar a fração de albumina pela eletroforese em amostras de urina de 24 horas e a RAP em amostras isoladas em 42 pacientes ambulatoriais com doença renal crônica. Resultados: Foi observada uma forte correlação logarítmica r = 0,84 (0,75-0,92; 95% CI, p = 0,001) entre a RAP e a fração de albumina pela EPU. Conclusão: A RAP pode substituir a eletroforese urinária em pacientes renais crônicos ambulatoriais.
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ABSTRACT Objective: To verify the relationship between the presence of proteinuria as a renal injury marker in elderly without history of systemic arterial hypertension and cardiovascular diseases. A cross-sectional study was developed from January 2014 to December 2019, through kidney disease prevention campaigns promoted by the Federal University of Ceará in the city of Fortaleza. Methods: The sample consisted of 417 elderlies. A questionnaire was used to characterize individuals and assess previous diseases, and urinalysis reagent strips were used to assess proteinuria. Results: Statistically significant differences (p < 0.05) and moderate effect sizes were found for blood pressure levels (CI 0.53-0.93), systolic blood pressure, and diastolic blood pressure (CI 0.21-0.61). Significant differences in capillary glycemia were also found between groups (p = 0.033), but with a low effect size (0.02-0.42). The group with comorbidities was 2.94 times more likely to have proteinuria than those without comorbidities (OR 2.94, CI 1.55-4.01; p < 0.05). In the group without cardiovascular disease/high blood pressure, a statistically significant association was found for previous diabetes and proteinuria (p = 0.037), presenting 2.68 times higher risk of proteinuria in those with diabetes mellitus (OR 2.68, CI 1.05-6.85). Significant association was also found between age groups, with the older group having 2.69 times higher risk of developing proteinuria (75 to 90 compared to 60 to 74 years) (CI 1.01-7.16; p = 0.045). Conclusion: Even without systemic arterial hypertension or cardiovascular disease, diabetes and older age can be considered high risk factors for proteinuria.
Resumo Objetivo: Verificar a relação entre a presença de proteinúria como marcador de lesão renal em idosos sem histórico de hipertensão arterial sistêmica e doenças cardiovasculares. Um estudo transversal foi desenvolvido de Janeiro de 2014 a Dezembro de 2019, por meio de campanhas de prevenção a doenças renais promovidas pela Universidade Federal do Ceará, na cidade de Fortaleza. Métodos: A amostra foi composta por 417 idosos. Um questionário foi usado para caracterizar indivíduos e avaliar doenças prévias, e foram utilizadas tiras reagentes de urinálise para avaliar proteinúria. Resultados: Diferenças estatisticamente significativas (p < 0,05) e tamanhos de efeito moderados foram encontrados para níveis de pressão arterial (IC 0,53-0,93), pressão arterial sistólica e pressão arterial diastólica (IC 0,21-0,61). Também foram encontradas diferenças significativas na glicemia capilar entre grupos (p = 0,033), mas com um tamanho de efeito baixo (0,02-0,42). O grupo com comorbidades apresentou 2,94 vezes mais probabilidade de ter proteinúria do que aqueles sem comorbidades (OR 2,94; IC 1,55-4,01; p < 0,05). No grupo sem doença cardiovascular/hipertensão, foi encontrada uma associação estatisticamente significativa para diabetes anterior e proteinúria (p = 0,037), apresentando risco 2,68 vezes maior de proteinúria naqueles com diabetes mellitus (OR 2,68; IC 1,05-6,85). Também foi encontrada uma associação significativa entre faixas etárias, com o grupo mais velho apresentando risco 2,69 vezes maior de desenvolver proteinúria (75 a 90 em comparação com 60 a 74 anos) (IC 1,01-7,16; p = 0,045). Conclusão: Mesmo sem hipertensão arterial sistêmica ou doença cardiovascular, o diabetes e a idade avançada podem ser considerados fatores de alto risco para proteinúria.
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Contexto: la glomerulonefritis aguda posinfecciosa (GNPI) representa un riesgo para el desarrollo de insuficiencia renal a largo plazo. Objetivo: describir la incidencia de proteinuria persistente y factores asociados en pacientes con antecedente de GNPI en una cohorte pediátrica de un hospital de referencia en Paraguay. Metodología: se incluyó a 121 pacientes con síndrome nefrítico con C3 disminuido, con normalización a los tres meses, aunque no se haya comprobado etiología estreptocócica. Se excluyó a los pacientes con enfermedad renal previa, con síndrome nefrítico secundario y con menos de seis meses de seguimiento. Se analizaron las características sociodemográficas, infecciones precedentes, aclaramiento de creatinina, días de hipertensión arterial y de internación, además de la relación de estas con la persistencia de proteinuria a los seis meses y más de seguimiento. Resultados: de los 121 pacientes entre 2 a 16 años de edad incluidos, 75 pacientes tuvieron un seguimiento médico entre 6 y 48 meses, de los cuales 43 (57,3 %) desarrollaron proteinuria persistente, la cual se asoció con un menor aclaramiento de creatinina (p = 0,03; 67,74 ± 25,69 mL/min/1,73 m2 SC vs. 80,22 ± 2,98 mL/min/1,73 m2 SC), con el número promedio de convivientes (6,3 ± 2,8 vs. 5,3 ± 2,3; p = 0,027) y el número promedio de hijos (4,3 ± 2,7 vs. 3,6 ± 2,3; p = 0,048). No se encontró asociación con las otras características. Conclusiones: la incidencia de proteinuria se asoció con un menor aclaramiento de creatinina y con una mayor frecuencia de los determinantes sociales en salud.
Background: Acute post-infectious glomerulonephritis (PIGN) represents a risk for the development of long-term renal failure. Purpose: To describe the incidence of proteinuria in patients with a history of PIGN in a pediatric cohort at a referral hospital in Paraguay. Methodology: a total of 121 patients with nephritic syndrome with decreased C3 and normalization at 3 months, although streptococcal aetiology has not been proven were included. Patients with with previous kidney disease, with secondary nephritic syndrome and with less than 6 months of follow up were excluded. Sociodemographic characteristics, previous infection, creatinine clearance, days of arterial hypertension and hospitalization were analyzed, in addition to their relationship with the persistence of proteinuria at 6 months and more of follow-up. Results: Of the 121 patients between 2 and 16 years of age included, 75 patients had a medical follow-up between 6 and 48 months, 43 (57.3 %) of them developed persistent proteinuria, which was associated with lower creatinine clearance (p = 0.03; 67.74 ± 25.69 mL/min/1.73 m2 BM vs 80.22 ± 2.98 mL/min/1.73 m2 BM), higher average number of cohabitants (6.3 ±2.8 vs 5.3±2.3; p= 0.027) and higher average number of children (4.3±2.7 vs 3.6±2.3; p= 0.048). No association was found with other characteristics. Conclusions: the incidence of proteinuria in this series was associated with lower creatinine clearance and a higher frequency of social determinants in health.
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Background and Objectives : Hypertension is a significant public health issue. Isolated Systolic Hypertension (ISH) was once considered to be a benign aspect among the aging population, but an association with an increased risk of Cardiovascular Disease is now known. ISH shows an increasing prevalence with increase in age. This study was undertaken to determine the incidence of ISH among adults in Eastern India. Methods : This study evaluated the adult population (aged 18-70 years) attending the NRS Medical College and Hospital, a Tertiary Care Center in East India. The clinical characteristics and echocardiographic findings were also evaluated. Results : A total of 800 patients met the inclusion criteria, of whom 75 (9.37%) had ISH. Blood Pressure increased with age. The most common echocardiographic change observed in ISH patients was increased Left Ventricular Mass Index (LVMI), while concentric Left Ventricular Hypertrophy (LVH) was more common in women than men with isolated Systolic Hypertension. The incidence of LVMI increased as the severity of ISH increased. Furthermore, patients with stage 3 ISH were nearly 4 times more likely to develop Proteinuria. Conclusion : The findings of this study are in line with previous studies evaluating the presence of ISH in the adult Indian population. There is need for effective population screening along with effective treatment for Blood Pressure to reduce morbidity and mortality. Primary prevention strategies may be the need of the hour in the Indian population which is at risk of cardiovascular Disease associated with Hypertension