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BACKGROUND: Snake bite continues to be an important public health problem in tropical countries, and Russell's viper is common in south-Asian countries such as India, Sri Lanka, and Myanmar. CASE-DIAGNOSIS/TREATMENT: Russell's viper envenomation can cause acute kidney injury (AKI) by various mechanisms. Few studies address AKI following Russell's viper bite in the pediatric population. CONCLUSIONS: In this study, we report our center's 6-year experience of such pediatric patients and identify the poor prognostic factors.
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Injúria Renal Aguda/etiologia , Daboia , Mordeduras de Serpentes/complicações , Injúria Renal Aguda/diagnóstico , Injúria Renal Aguda/mortalidade , Injúria Renal Aguda/terapia , Adolescente , Fatores Etários , Animais , Criança , Pré-Escolar , Feminino , Humanos , Índia , Masculino , Prognóstico , Estudos Prospectivos , Estudos Retrospectivos , Mordeduras de Serpentes/diagnóstico , Mordeduras de Serpentes/mortalidade , Mordeduras de Serpentes/terapia , Fatores de TempoRESUMO
Sporotrichosis is a rare form of subacute and chronic fungal infection in renal transplant recipients caused by the ubiquitous fungus Sporothrix schenckii. It is usually described in renal allograft recipients who have not been treated with antifungal prophylaxis. We report a rare case of cutaneous sporotrichosis in a 39-year-old renal allograft recipient already on antifungal prophylaxis, who presented with skin lesions. The diagnosis was made from a skin biopsy. The patient had increased tacrolimus levels after starting treatment with itraconazole, which was later changed to terbinafine and cryotherapy. The patient responded to treatment with regression of his lesions.
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Transplante de Rim , Esporotricose , Humanos , Adulto , Esporotricose/diagnóstico , Esporotricose/tratamento farmacológico , Esporotricose/microbiologia , Antifúngicos/uso terapêutico , Transplante de Rim/efeitos adversos , Itraconazol/uso terapêutico , Terbinafina/uso terapêuticoRESUMO
In recent years, adynamic bone disease (ABD) has become a common skeletal lesion in adult patients with chronic kidney disease. We aimed to compare the effects of low calcium dialysate (LCD) and standard calcium dialysate of our facility [high calcium dialysate (HCD)] on the evolution of bone and mineral parameter related to ABD in dialysis patients. Forty patients with predialysis intact parathyroid hormone (iPTH) <100 pg/mL and/or bone-specific alkaline phosphatase (BAP) <27 U/L were included in this study and were equally distributed over LCD (1.25 mmol/L) or HCD (1.75 mmol/L) treatment. The duration of the study was 6 months. There was no significant difference in baseline characters and biochemical parameters related to chronic kidney disease-mineral and bone disorder in both the groups. The groups did not differ in the mean tCa before dialysis, but this parameter was significantly lower in the LCD group versus HCD at the end of the study. The mean serum levels of iPTH, total alkaline phosphatase, and BAP in the LCD group were increased at 3 months and at the end of the study compared with the baseline levels. The bone markers in the HCD group did not change significantly. At the end of the study, all bone parameters in the LCD group were significantly higher than in the HCD group. Development of measures indicating increased bone turnover in patients receiving 1.25 mmol/L of dialysate calcium, most likely as a result of inhibiting a positive calcium balance and allowing for long-term PTH secretion stimulation. Hence, LCD might be considered a valuable therapeutic option for ABD patients.
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Doenças Ósseas , Hipercalcemia , Adulto , Humanos , Cálcio , Soluções para Diálise , Fosfatase Alcalina , Hormônio Paratireóideo , Diálise Renal/efeitos adversosRESUMO
Nutritional assessment is a basic and necessary process in the nutritional management of dialysis patients. Malnutrition is a prevalent complication in patients on maintenance hemodialysis (HD). The study aimed to evaluate its relationship with the duration of dialysis, demographic and socioeconomic profile of HD patients, and to assess malnutrition inflammation score (MIS) in HD patients. In this descriptive-analytical study, 153 HD patients were selected with random sampling. All the patients were interviewed and the MIS of the patients was recorded. Evaluate the relationship of malnutrition with the duration of dialysis, demographic and socioeconomic profile of HD patients, and to assess MIS in HD patients. Patients were followed up for 3 months. Data were analyzed with Chi-square and t-tests and Pearson correlation coefficient. A total of 153 patients were studied, 53 (34.64%) patients had good nutritional status and 100 (65.35%) patients had malnutrition. The mean of patients MIS score was 10.71 ± 5.14. Malnutrition rates in males and females were not significantly different. There was a positive and significant relationship between age and MIS score (P = 0.035). There was also a significant correlation between the level of education and MIS score (P = 0.042). The mean dialysis duration was 25.52 ± 2 6.27 months. There was a significant difference in the duration of dialysis in mild to severely malnourished patients (P = 0.002). A significant correlation between MIS score and the serum calcium and serum iron results (r = 0.402). The rise in serum prealbumin level was significantly greater at 3 months. MIS score is the best tool to assess nutritional status in patients with ESRD undergoing HD, because it can recognize various degrees of malnutrition that may remain undetected by a single laboratory assessment. The correlation between MIS score and age and dialysis period was significant.
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Falência Renal Crônica , Desnutrição , Masculino , Feminino , Humanos , Estado Nutricional , Desnutrição/diagnóstico , Desnutrição/epidemiologia , Desnutrição/etiologia , Falência Renal Crônica/complicações , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/terapia , Inflamação/diagnóstico , Diálise Renal/efeitos adversosRESUMO
Background: Complicated urinary tract infection (cUTI) is the one which is associated with structural and functional abnormalities of the urinary tract, thus increasing the risk of infection and failure of therapy. Aim: This study aims to determine the risk factors, changing trends in etiology, current treatment options, and outcomes in cUTI. Materials and Methods: This prospective observational study was done on patients presenting with cUTI. Hematological, biochemical workup, urine routine, urine culture, blood culture, ultrasonography, and wherever necessary computerized tomography of the genitourinary tract was done. The medical/surgical interventions and outcomes in these patients were recorded. Results: A total of 100 patients were enrolled in the study. Diabetes mellitus was the most common risk factor present in 53%. The most common organism isolated in urine culture was Escherichia coli (48%) followed by Klebsiella pneumoniae (19%) and similar trend but lesser positive yield was there in blood culture (Escherichia coli - 26% followed by Klebsiella pneumoniae - 3%). The organisms were most susceptible to colistin/polymyxin (100%) followed by carbapenems (88%), and later were the most commonly used empirical antibiotics in our study, yielding 95% survival rate. Surgical interventions (percutaneous/endourological) were required in 28%, renal replacement therapy in 14%, intensive care in 40% and mechanical ventilation in 10%, with 4% overall mortality at the end of 1-month follow-up. The mean duration of hospital stay was 9.1 ± 2.7 days. Conclusion: Escherichia coli was the most common organism causing cUTI, with diabetes being the most common risk factor. Most of the patients were treated with carbapenems with excellent survival outcomes.
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The prevalence of this rare and fatal entity varies in different regions and ethnicities. The objective of this study was to determine clinicopathological characteristics and predictors of outcome in rapidly progressive glomerulonephritis (RPGN). We aimed to prospectively study the clinicopathological profile and determine the predictors of renal outcome in patients with RPGN. This study included 40 patients of biopsy-proven RPGN. The diagnosis of RPGN was based on renal histology showing crescents in >50% of glomeruli. All patients were given induction with intravenous (IV) methylprednisolone (0.5 g) for three days followed by maintenance with oral prednisolone (1 mg/kg/day) and six IV pulses of cyclophosphamide (0.5 g) given fortnightly followed by maintenance therapy with azathioprine (2 mg/kg/day). The outcomes were recorded. Three-fourth of the patients (77.4%) required renal replacement therapy (RRT) at diagnosis. More than half of patients (57.5%) were antineutrophil cytoplasmic antibodies mediated. Immune complex and anti-glomerular basement membrane (GBM) disease constituted 25% and 17.5%, respectively. Clinical features, biochemical parameters, histological features, and type of RPGN were analyzed for association with primary outcomes. Entry serum creatinine, entry estimated glomerular filtration rate (eGFR), RRT on admission, interstitial fibrosis, tubular atrophy, and interstitial infiltrates were the parameters which showed association with primary outcomes of the study (P <0.05). In secondary outcomes, infections were the most common (55%), followed by neutropenia (40%). One-fourth of the patients (25%) died during the course of the study. Cause of mortality was infections (50%), cardiovascular system (30%), stroke (10%), and unknown (10%). Our prospective study from north India shows that RPGN is not an uncommon cause of renal failure and there is preponderance in the elderly patients (>60 years). Pauci-immune RPGN is the most common cause of RPGN followed by immune-complex and anti-GBM disease. Entry serum creatinine, eGFR, and RRT on admission predicted the outcome.
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Doença Antimembrana Basal Glomerular , Glomerulonefrite , Nefrite , Humanos , Idoso , Glomerulonefrite/diagnóstico , Glomerulonefrite/epidemiologia , Glomerulonefrite/terapia , Estudos Prospectivos , Creatinina , Rim/patologia , Nefrite/patologia , Doença Antimembrana Basal Glomerular/complicações , Anticorpos Anticitoplasma de Neutrófilos , Metilprednisolona/uso terapêuticoRESUMO
Nephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in their clinical prognosis, progression, and disease management. Several pathogenic mutations in the COQ8B gene are known to cause nephrotic syndrome. Here, we used the whole-exome sequencing (WES) technology to decipher the genetic cause of nephrotic syndrome (CKD stage-V) in a large affected consanguineous family. Our study exposed a novel missense homozygous mutation NC_000019.9:g.41209497C > T; NM_024876.4:c.748G > A; NP_079152.3:p.(Asp250Asn) in the 9th exon of the COQ8B gene, co-segregated well with the disease phenotype. Our study provides the first insight into this homozygous condition, which has not been previously reported in 1000Genome, ClinVar, ExAC, and genomAD databases. In addition to the pathogenic COQ8B variant, the WES data also revealed some novel and recurrent mutations in the GLA, NUP107, COQ2, COQ6, COQ7 and COQ9 genes. The novel variants observed in this study have been submitted to the ClinVar database and are publicly available online with the accessions: SCV001451361.1, SCV001451725.1 and SCV001451724.1. Based on the patient's clinical history and genomic data with in silico validation, we conclude that pathogenic mutation in the COQ8B gene was causing kidney failure in an autosomal recessive manner. We recommend WES technology for genetic testing in such a consanguineous family to not only prevent the future generation, but early detection can help in disease management and therapeutic interventions.
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Mutação/genética , Síndrome Nefrótica/genética , Proteínas Quinases/genética , Adolescente , Adulto , Sequência de Aminoácidos , Consanguinidade , Éxons/genética , Feminino , Testes Genéticos/métodos , Homozigoto , Humanos , Falência Renal Crônica/genética , Masculino , Linhagem , Fenótipo , Sequenciamento do Exoma/métodos , Adulto JovemRESUMO
BACKGROUND: Hemodialysis in end-stage renal disease patients causes disability in different domains of patient's lives, leading to impaired (quality of life [QOL]). Studies measuring the QOL in patients on renal replacement therapy are limited in the Indian scenario. AIMS: To evaluate the QOL in adult patients on maintenance hemodialysis by applying the World Health Organization QOL (WHOQOL)-BREF scale. MATERIAL AND METHODS AND STUDY DESIGN: Health-related QOL was evaluated in 100 adult patients on maintenance haemodialysis for 3 months or more in Dayanand Medical College and Hospital, Ludhiana. The WHOQOL-BREF was applied in these patients and the physical, psychological, social, and environmental health domains were assessed. RESULTS: Most common age group was 31-60 years (56%) with a mean age of 54.44 years, male: 74%. Patients with age more than 60 years had better QOL scores in the social domain which was statistically significant (P = 0.005). Male patients had better scores in all four domains and was significant in the social domain (P = 0.025). Married patients had better QOL scores in social domain. Duration of dialysis had a reverse correlation with QOL scores in physical domain with better scores in dialysis duration of <12 months. Frequency of dialysis did not significantly affect the QOL scores. QOL scores were directly related to the monthly family income in all four domains with the highest income group showing better scores (P < 0.05). CONCLUSION: The present study provided an insight into the factors that affect the QOL in hemodialysis patients. Patients with age >60 years had better QOL scores in the social domain. Female gender, low serum proteins, HD duration of more than 1 year, and low monthly income were found to be associated with impaired QOL domains in patients undergoing maintenance hemodialysis.
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INTRODUCTION: Mineral bone disease is an important complication of chronic kidney disease ends up in increased cardiovascular morbidity and mortality in these patients. The aim of present study was to determine the pattern, prevalence and the clinical, biochemical and radiological profile of mineral bone disease in predialysis and dialysis (stage 5D) patients of chronic kidney disease. METHODS: Patients of stage 3, 4, 5 and 5D of chronic kidney disease admitted to the department of nephrology were enrolled in this study. RESULTS: 200 patients of chronic kidney disease (19, 29, 43 and 109 cases of stage 3, 4, 5 and 5D respectively) with mean age of 52.4 ± 16.7 years and male to female ratio of 2.4:1 were enrolled. Diabetic nephropathy (45%), hypertensive nephropathy (33%), and chronic glomerulonephritis (14.5%) were the most common etiologies of chronic kidney disease. Proximal muscle weakness (91.5%) bone pain (59.5%) and pruritus (25.5%) were the common symptoms. Biochemical parameters showed hypercalcemia (19%), hypocalcaemia (55%), hyperphosphatemia (75.5%) and vitamin D deficiency in 84.5% of cases. High turnover bone disease was present in all predialysis and only 7% of dialysis patients. Adynamic bone disease was observed in 92.7% of dialysis patients. On univariate analysis i-PTH was significantly associated with sex, eGFR, serum calcium, and 25(OH) vit-D level and no association was found with age and FGF-23 levels. CONCLUSION: Adynamic bone disease has emerged as the most common form of CKD-MBD in dialysis patients and secondary hyperparathyroidism being common in the predialysis patients of chronic kidney disease. Hyperphosphatemia and vitamin D deficiency were the most common reported biochemical abnormalities.
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Distúrbio Mineral e Ósseo na Doença Renal Crônica , Insuficiência Renal Crônica , Adulto , Idoso , Distúrbio Mineral e Ósseo na Doença Renal Crônica/epidemiologia , Estudos Transversais , Feminino , Fator de Crescimento de Fibroblastos 23 , Humanos , Masculino , Pessoa de Meia-Idade , Minerais , Hormônio Paratireóideo , Estudos Prospectivos , Diálise Renal , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/terapia , Centros de Atenção Terciária , Vitamina DRESUMO
BACKGROUND: End-stage renal disease is a major risk factor for cardiovascular disease. Kidney transplantation (KT) may lead to reversal of these cardiac changes. METHODS: Echocardiographic changes in cardiac structure and function were recorded in 30 patients with end-stage renal disease before KT, and 3 months and 6 months after KT. Patients with ischemic heart disease and valvular heart disease were not included. RESULTS: Thirty patients with a mean age of 34±12 years were studied, and 28 (93%) were male. Mean duration of hemodialysis (none on peritoneal dialysis) was 9.18±8.39 months. There was significant improvement in echocardiographic parameter of cardiac morphology and the cardiac systolic and diastolic functions after KT. CONCLUSIONS: This longitudinal prospective study found significant regression of left ventricular hypertrophy within 6 months after renal transplant. There was also an improvement in ventricular functions on echocardiography. The improvement in hemoglobin shows linear correlation with reduction in left ventricular dimension and improvement in left ventricular functions.
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Hipertrofia Ventricular Esquerda/patologia , Transplante de Rim , Resultado do Tratamento , Função Ventricular Esquerda/fisiologia , Adulto , Ecocardiografia , Feminino , Humanos , Hipertrofia Ventricular Esquerda/etiologia , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
BACKGROUND: Clinical experience on details of CRRT initiation and outcomes in cardiac intensive care unit (CICU) patients is not available from developing countries like India. This study shares the 5-year clinical experience of managing CICU patients requiring CRRT in a tertiary care cardiac center of North India. MATERIALS AND METHODS: Medical records of all CICU patients with acute kidney injury (AKI) managed by CRRT from October 2011 to September 2016 at tertiary referral center in North India were retrospectively reviewed. Multiple logistic regression analysis was used to identify predictors of post-CRRT mortality. RESULTS: A total of 630 patients received CRRT during the study period. Most commonly AKI developed in patients with acute coronary syndrome (30.2 %) with cardiogenic shock. 55.9 % of the CRRT patients were >60 years of age, and/or on multiple supports in ICU including, mechanical ventilation, high doses of inotropes & vasopressors and other cardiovascular support. Of those on CRRT, 130 (20.6 %) patients had died, 215 (34.1 %) were discharged and 285 (45.2 %) could not complete the desired course. Multivariate regression analysis showed independent association of mortality with high vasoactive-inotropic score, single CRRT cycle and low mean arterial pressure in CRRT patients. CONCLUSION: About 34.1 % of patients receiving CRRT were alive at discharge, emphasizing the feasibility and utility of CRRT as a promising modality in this population for improving outcomes.
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Injúria Renal Aguda , Terapia de Substituição Renal Contínua , Injúria Renal Aguda/epidemiologia , Injúria Renal Aguda/terapia , Humanos , Unidades de Terapia Intensiva , Terapia de Substituição Renal , Estudos Retrospectivos , Atenção Terciária à SaúdeRESUMO
OBJECTIVE: The objective of this study was to investigate the impact of anti-platelet drug/s on duration of continuous renal replacement therapy (CRRT) in those patients where anti-coagulants were not used due to certain contraindications and in cases where patients were on anti-platelet drugs and were given anti-coagulant during CRRT. METHOD: This single-center, retrospective cohort study was conducted using the medical records patients treated with CRRT in the cardiac ICU of the inpatient urban facility, located in North India. Data was collected from only those patients who received CRRT for the duration of at least 12 h. Patient's in NAC group were not on any anti-platelet/s and did not receive anti-coagulant during CRRT. AC and AP group patients received anti-coagulant alone or were already on anti-platelet/s and did not receive anti-coagulant respectively while ACAP group patients were on anti-platelet drug/s and also received anti-coagulant during CRRT. RESULT: Patients in AC, AP, or ACAP group showed significantly (p < 0.001) higher CRRT filter life compared to NAC group. The median CRRT filter life was significantly higher in the ACAP group compared to AC (p < 0.05) and AP (p < 0.001) groups. CONCLUSION: This study indicates that systemic anti-platelet therapy can provide additional support in critical patients undergoing CRRT even with or without anti-coagulant therapy. However, the increase in CRRT filter life was more profound in patients who were on anti-platelet/s and also received anti-coagulant drug/s during CRRT.
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Injúria Renal Aguda , Terapia de Substituição Renal Contínua , Preparações Farmacêuticas , Injúria Renal Aguda/terapia , Humanos , Unidades de Terapia Intensiva , Terapia de Substituição Renal , Estudos RetrospectivosRESUMO
The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inositol polyphosphate-5-phosphatase. We report a male child from North India, with LS with missense mutation in exon 14 of the OCRL gene.
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Mutação de Sentido Incorreto/genética , Síndrome Oculocerebrorrenal/genética , Monoéster Fosfórico Hidrolases/genética , Adolescente , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Mãos/diagnóstico por imagem , Mãos/patologia , Humanos , Índia , Masculino , Síndrome Oculocerebrorrenal/diagnóstico por imagem , Síndrome Oculocerebrorrenal/patologia , Pelve/diagnóstico por imagem , Pelve/patologiaRESUMO
Pregnancy-related acute kidney injury (PRAKI) and urological complications can significantly increase the maternal morbidity and mortality, and morbidly adherent placenta (MAP) has been found to increase the risk of both. This is a four-year prospective study, conducted on patients with MAP. Baseline parameters (demographic/antenatal/perinatal), operative details (obstetric/urological/hemostatic), peri-operative complications (AKI/urological), and maternal/fetal outcomes were studied till six weeks after delivery. Statistical analysis was done using IBM SPSS Statistics version 21.0, and P <0.05 was considered statistically significant. Out of the 5475 deliveries conducted in the study period, 64 had adherent placentation. AKI occurred in 39.1% of patients, with severe AKI (AKIN-2, 3) in 10.9%, and significantly higher incidence in placenta percreta (P = 0.021, relative risk [RR] - 2.34), urological injuries (P = 0.001, RR - 2.86), and high blood loss (P = 0.001) on univariate analysis, but placenta percreta was the most statistically significant factor P = 0.049) on multivariate analysis. Urological involvement/injuries requiring intervention were encountered in 22 patients, with statistically significantly high incidence in placenta previa (P = 0.023, RR - 1.62), placenta percreta (P = 0.000, RR - 17.18), and patients undergoing hysterectomy (P = 0.000, RR - 2.01) on univariate analysis, but placenta percreta was most statistically significantly implicated on multivariate analysis (P = 0.017). AKI and urological injuries significantly increased the need for intensive care and days of hospitalization. On six-week follow-up, all AKI patients recovered completely; no urinary leak or vesico-vaginal fistula was seen in urologically intervened patients and no maternal mortality occurred. There is an alarmingly high incidence of PRAKI and urological complications in MAP, posing a great threat to their worldwide improving statistics. Awareness of this condition among renal fraternity can significantly improve the maternal renal and overall prognosis.
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Injúria Renal Aguda/epidemiologia , Placenta Acreta/epidemiologia , Placenta Prévia/epidemiologia , Injúria Renal Aguda/diagnóstico , Injúria Renal Aguda/terapia , Adulto , Transfusão de Sangue , Feminino , Hemostasia Cirúrgica , Humanos , Histerectomia , Incidência , Índia/epidemiologia , Pessoa de Meia-Idade , Placenta Acreta/diagnóstico , Placenta Acreta/cirurgia , Placenta Prévia/diagnóstico , Placenta Prévia/cirurgia , Gravidez , Estudos Prospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
Cardiorenal syndrome (CRS) in people with type 2 diabetes mellitus (T2DM) illustrates the bidirectional link between the heart and the kidneys, with acute or chronic dysfunction of one organ adversely impacting the function of the other. Of the five subtypes identified, type 1 and 2 CRS occur because of the adverse impact of cardiac conditions on the kidneys. Type 3 and 4 occur when renal conditions affect the heart, and in type 5, systemic conditions impact the heart and kidneys concurrently. The cardiovascular and renoprotective benefits evidenced with sodium-glucose cotransporter-2 (SGLT2) inhibitors make them a potential choice in the management of CRS. Cardiovascular protection is mediated by a reduction in cardiac workload, blood pressure, and body weight; with improvement in lipid profile, uric acid levels, and adaptive ketogenesis process. Renoprotection is facilitated by reduction in albuminuria and hypoxic stress, and restoration of tubuloglomerular feedback. The favourable effect on cardiovascular complications and death, as well as renal complications and progression to end-stage kidney disease, has been confirmed in clinical trials. Guidelines endorse first-line use of SGLT2 inhibitors after metformin in patients with T2DM with high cardiovascular risk, chronic kidney disease or both. Since most trials with SGLT2 inhibitors excluded subjects with acute illness, patients with CRS subtypes 1 and 3 have not been studied adequately, making SGLT2 initiation in clinical practice challenging. Ongoing trials may provide evidence for SGLT2 inhibitor use in CRS. This review aims to enhance understanding of CRS and provide guidance for judicious use of SGLT2 inhibitors in T2DM.
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Hematological conditions rarely present as isolated hematuria. Factor VII deficiency is a rare congenital coagulopathy inherited as autosomal recessive pattern. It usually presents a severe life-threatening bleeding at an early age. The presentation of congenital factor VII factor deficiency for the first time as recurrent hematuria at a later age is a rare presentation. We report a case of a 23-year-old male, who presented to us with recurrent episodes of painless hematuria for the past three months due to congenital factor VII deficiency.
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Deficiência do Fator VII/congênito , Hematúria/etiologia , Fatores Etários , Testes de Coagulação Sanguínea , Deficiência do Fator VII/diagnóstico , Humanos , Masculino , Prognóstico , Recidiva , Adulto JovemRESUMO
Metachondromatosis is a rare disorder of autosomal inheritance with incomplete penetrance, which is characterized by formation of osteochondroma and enchondroma, caused by loss of function of the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene. Diagnosis is made based on the distribution and orientation of lesions with history of regression of lesions with time and confirmed by genetic mutation of PTPN11 gene. We report a rare case of a 24-year-old male with Alport's syndrome with metachondromatosis due to missense variation in PTPN11 gene.
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Neoplasias Ósseas/genética , Condromatose/genética , Colágeno Tipo IV/genética , Exostose Múltipla Hereditária/genética , Mutação , Nefrite Hereditária/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Sítios de Splice de RNA , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/enzimologia , Condromatose/diagnóstico , Condromatose/enzimologia , Análise Mutacional de DNA , Exostose Múltipla Hereditária/diagnóstico , Exostose Múltipla Hereditária/enzimologia , Predisposição Genética para Doença , Hemizigoto , Heterozigoto , Humanos , Masculino , Mutação de Sentido Incorreto , Nefrite Hereditária/diagnóstico , Fenótipo , Fatores de Risco , Adulto JovemRESUMO
Melanonychia is described as a brown to black pigmentation of nail, due to stimulation and hyperplasia of nail matrix. Various systemic disorders, trauma, inflammatory disorders, fungal infections, drugs, benign melanocytic hyperplasia, etc., are responsible for this condition, and most of them are benign. A number of chemotherapeutic agents can cause melanonychia. Cases of cyclophosphamide-induced melanonychia are not frequent. We report a 38-year-old female, a known case of steroid dependent nephrotic syndrome, who developed melanonychia on starting treatment with cyclophosphamide. It is a benign condition, which resolves on discontinuation of the drug.
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Ciclofosfamida/efeitos adversos , Melaninas/metabolismo , Doenças da Unha/induzido quimicamente , Unhas/efeitos dos fármacos , Síndrome Nefrótica/tratamento farmacológico , Transtornos da Pigmentação/induzido quimicamente , Esteroides/uso terapêutico , Adulto , Feminino , Humanos , Doenças da Unha/diagnóstico , Doenças da Unha/metabolismo , Unhas/metabolismo , Síndrome Nefrótica/diagnóstico , Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/metabolismoRESUMO
BACKGROUND: Hemodialysis (HD) and peritoneal dialysis (PD) are important renal replacement treatments in end stage renal disease (ESRD). There is paucity of data comparing outcomes and quality of life (QOL) between the two modalities in Indian scenario. MATERIALS AND METHODS: We followed 60 End stage renal disease patients (30 CAPD and 30 Maintenance hemodialysis) for a period of one year. Patients were analysed and compared for complications, physical quality of life and psychological well being with a two part self reported questionnaire at baseline and subsequently at six and twelve months. For the physical component appropriate sections of the McMaster Health Index Questionnaire (MHIQ) and for psychological component Psychological General Well-Being Index (PGWB) developed by Dupey was applied. RESULTS: The number of males and females in both groups were comparable (p-value > 0.05).The prevalence of diabetes mellitus, coronary artery disease, obesity and ischaemic heart disease was comparable in both groups (p-value>0.05). Significantly higher mortality was observed in patients undergoing HD (20% vs 0 %, p-value <0.05) at the end of study. At the end of study, 16.6% of patients undergoing HD were found to be anti HCV positive as compared to 3.33% in CAPD. Six episodes of CAPD peritonitis were observed (0.2 episodes per catheter year). Significantly higher number of CAPD patients had negative responses between 2-4 at baseline and subsequently on follow ups in Part A of QOL questionnaire(86.7 vs 23.3 % at baseline, 80 vs 26.7% at 6 months, 80 vs16.7 % at 12 months; p <0.05 ). Mean score in Part B of questionnaire was significantly higher in CAPD patients at baseline and at all follow ups (66.7±11 vs 50.1±17 at baseline, 66.7±12.1 vs 53.32±16.3 at 6 months, 65.3±9.5 vs 48.8±16.7 at 12 months , p <0.05) . CONCLUSION: CAPD patients have significantly better quality of life in physical as well as psychological aspects and have significantly lower mortality when compared with hemodialysis patients.