Enfermedad renal crónica por glomeruloesclerosis focal y segmentaria asociada a VIH en adolescente / Chronic kidney disease due to focal and segmental glomerulosclerosis associated with HIV in an adolescent

RESUMEN Las enfermedades glomerulares más frecuentes asociadas al síndrome nefrótico (SN) en adultos son la glomerulonefritis membranosa (GM) y la glomeruloesclerosis focal y segmentaria (GEFS), relacionada a VIH e infrecuente en adolescentes. Nuestro objetivo es describir un caso de GEFS asociado a VIH además de la coexistencia de amiloidosis y evidenciar su mejoría con el tratamiento terapia antirretroviral de gran actividad (TARGA). Adolescente femenina de 14 años ingresa a emergencia por un tiempo de enfermedad de una semana tras presentar oliguria y anasarca; al mes reingresa por exacerbación del cuadro edematoso, se le diagnosticó artritis reumatoidea juvenil (ARJ). Se realizó biopsia renal y exámenes de secundarismos siendo positiva a VIH. En conclusión, es inusual encontrar esta glomerulopatía en una adolescente, por ello es necesario considerar inicialmente la presencia de secundarismos en adolescentes, evidenciando la mejoría de la GEFS asociada a infección de VIH con un tratamiento TARGA.

ABSTRACT The most frequent glomerular diseases associated with nephrotic syndrome (NS) in adults are membranous glomerulonephritis (MG) and focal segmental glomerulosclerosis (FSGS), related to HIV and infrequent in adolescents. Our objective is to describe a case of FSGS associated with HIV and the coexistence of amyloidosis and to demonstrate its improvement with highly active antiretroviral therapy (HAART). A 14-year-old female adolescent was admitted to the Emergency Department for 1 week of illness after presenting oliguria and anasarca; a month later she was readmitted due to exacerbation of edematous symptoms and was diagnosed with juvenile rheumatoid arthritis (JRA). A renal biopsy was performed and secondarism tests were positive for HIV. In conclusion, it is unusual to find this glomerulopathy in an adolescent, so it is necessary to consider initially the presence of secondary disease in adolescents, showing the improvement of FSGS associated with HIV infection with HAART treatment.

Multiple gene mutations in cytomegalovirus positive infantile nephrotic syndrome: a case report

The term 搃nfantile� is used for those cases of nephrotic syndrome (NS) that manifest from 3 months to 1 year of age. These are rare diseases attributable to both genetic and certain congenital infections. The prognosis depends on the type of mutation and whether remission occurs with specific therapy in the latter. However, multiple other gene mutations may be found associated with these that hold individual significance. Here, we report a case of an 11-month-old child with infantile NS having novel gene mutations NPHS 2 gene and the gut-associated lymphoid tissues (GALT) on Exon 4 and Exon 5 gene respectively. The presence of hepatomegaly and poor nutritional status instigated us to investigate congenital infections. Positive IgM and IgG values of cytomegalovirus (CMV) in the TORCH profile and a positive urinary polymerase chain reaction confirmed CMV infection, though we were unable to establish whether it was congenital or acquired postnatally. The child was managed with injectable gancyclovir along with supportive therapy which showed partial remission after a period of 10 days and discharge on angiotensin converting enzyme (ACE) inhibitor and diuretic. The coexistence of the multiple gene mutations might have caused the severity of the phenotype. Also, identification and treatment at earlier notice might have an impact on the outcome of the disease. The authors emphasize the importance of performing a genetic test in cases of infantile NS and also working up for acquired causes on an individualized basis.

Stroke associated with primary membranous nephropathy in a young adult: Case report / Evento cerebral isquémico asociado con nefropatía membranosa primaria en un adulto joven: reporte de caso

Introduction. Stroke in young individuals is becoming increasingly prevalent worldwide. Its causes can vary widely, so a thorough investigation by a multidisciplinary team is needed. Pinpointing the precise underlying pathology responsible for the stroke yields benefits for patients, particularly in recurrent events. Case presentation. A 38-year-old man presented to the emergency department with symptoms suggestive of stroke, including right hemiparesis, dysarthria, ataxic gait, and right central facial palsy. The brain magnetic resonance image revealed an ischemic lesion located in the left basal ganglia and near the corona radiata. Following an extensive workup, a diagnosis of nephrotic was reached. Histopathology and the exclusion of secondary causes confirmed primary membranous nephropathy as the underlying condition. The patient underwent treatment tailored to address the specific glomerulopathy, along with anticoagulation therapy and immunosuppression as per current guidelines. Subsequent assessments showed stabilization of renal function, resolution of the edema, and the absence of new thromboembolic events during follow-up. Conclusion. The nephrotic syndrome should be recognized as a potential underlying cause of stroke in young patients and, therefore, it should be included in the differential diagnosis during the evaluation of patients with coagulopathies. Nephrotic syndrome screening may be done by conducting a simple urinalysis readily available in most healthcare facilities. This underlines the importance of considering renal pathology in the assessment of stroke etiologies, especially when coagulation abnormalities are present.

Introducción. Los eventos cerebrovasculares en los jóvenes son un problema creciente en todo el mundo. Su etiología puede ser variada y requieren un trabajo riguroso de un equipo multidisciplinario. La identificación de la enfermedad específica que conduce al ictus tiene un impacto beneficioso en los pacientes, especialmente en aquellos con eventos recurrentes. Presentación del caso. Se presenta el caso de un hombre de 38 años que acudió al servicio de urgencias con hemiparesia derecha, disartria, ataxia y parálisis facial central derecha. La resonancia magnética cerebral reveló una lesión isquémica localizada en los ganglios basales izquierdos, cerca de la corona radiada. Después de un estudio exhaustivo, se estableció el diagnóstico de síndrome nefrótico. No obstante, al analizar las características histopatológicas y descartar otras causas secundarias, el diagnóstico final fue una nefropatía membranosa primaria. El paciente recibió tratamiento específico para su glomerulopatía, anticoagulación e inmunosupresión según las guías vigentes. Durante el seguimiento, se encontró estabilización de la función renal, el edema se resolvió y no se identificó ningún nuevo evento tromboembólico. Conclusión. El síndrome nefrótico debe considerarse entre las posibles causas del ictus en pacientes jóvenes y debería tenerse en cuenta en los estudios de coagulopatías. El tamizaje de esta enfermedad requiere únicamente un uroanálisis, el cual está disponible en la mayoría de los centros de atención de salud.

Septic arthritis following mumps in a case of steroid dependent nephrotic syndrome: a case report

Nephrotic syndrome is a common renal disorder with an incidence of 20 to 40 per million population in developed countries. Children with nephrotic syndrome are especially susceptible to infections such as cellulitis, spontaneous bacterial peritonitis, and bacteremia. However, septic arthritis is an extremely rare complication in nephrotic syndrome. A 6-year-old girl with steroid dependent nephrotic syndrome relapsed following mumps parotitis and developed swelling of the right knee with restricted movements. Ultrasonography (USG) and magnetic resonance imaging (MRI) were suggestive of septic arthritis. The child responded to intravenous Vancomycin and Ceftazidime. We present a rare complication of nephrotic syndrome as septic arthritis, previously reported only once.

Effect of octreotide on oxidative stress in the erythrocyte and kidney tissue in adriamycin-induced experimental nephrotic syndrome model / Efeito do octreotide no estresse oxidativo em eritrócitos e no tecido renal no modelo de síndrome nefrótica experimental induzida por adriamicina

Abstract Introduction: Nephrotic syndrome (NS) is one of the reasons of end-stage kidney disease, and elucidating the pathogenesis and offer new treatment options is important. Oxidative stress might trigger pathogenesis systemically or isolated in the kidneys. Octreotide (OCT) has beneficial antioxidant effects. We aimed to investigate the source of oxidative stress and the effect of OCT on experimental NS model. Methods: Twenty-four non-uremic Wistar albino rats were divided into 3 groups. Control group, 2 mL saline intramuscular (im); NS group, adriamycin 5 mg/kg intravenous (iv); NS treatment group, adriamycin 5 mg/kg (iv) and OCT 200 mcg/kg (im) were administered at baseline (Day 0). At the end of 21 days, creatinine and protein levels were measured in 24-hour urine samples. Erythrocyte and renal catalase (CAT) and thiobarbituric acid reactive substance (TBARS) were measured. Renal histology was also evaluated. Results: There was no significant difference among the 3 groups in terms of CAT and TBARS in erythrocytes. Renal CAT level was lowest in NS group, and significantly lower than the control group. In treatment group, CAT level significantly increased compared with NS group. In terms of renal histology, tubular and interstitial evaluations were similar in all groups. Glomerular score was significantly higher in NS group compared with control group and it was significantly decreased in treatment group compared to NS group. Conclusions: Oxidative stress in NS might be due to the decrease in antioxidant protection mechanism in kidney. Octreotide improves antioxidant levels and histology in renal tissue and might be a treatment option.

Resumo Introdução: Síndrome nefrótica (SN) é uma das causas de doença renal em estágio terminal. É importante elucidar a patogênese e oferecer novas opções de tratamento. Estresse oxidativo pode desencadear a patogênese sistemicamente ou isoladamente nos rins. O octreotide (OCT) tem efeitos antioxidantes benéficos. Nosso objetivo foi investigar a fonte de estresse oxidativo e efeito do OCT no modelo experimental de SN. Métodos: Dividimos 24 ratos albinos Wistar não urêmicos em 3 grupos. Grupo controle, 2 mL de solução salina intramuscular (im); grupo SN, adriamicina 5 mg/kg intravenosa (iv); grupo tratamento SN, adriamicina 5 mg/kg (iv) e OCT 200 mcg/kg (im) foram administrados no início do estudo (Dia 0). Aos 21 dias, mediram-se os níveis de creatinina e proteína em amostras de urina de 24 horas. Mediu-se a catalase (CAT) eritrocitária e renal e a substância reativa ao ácido tiobarbitúrico (TBARS). Avaliou-se também histologia renal. Resultados: Não houve diferença significativa entre os três grupos em termos de CAT e TBARS em eritrócitos. O nível de CAT renal foi menor no grupo SN e significativamente menor que no grupo controle. No grupo tratamento, o nível de CAT aumentou significativamente em comparação com o grupo SN. Quanto à histologia renal, as avaliações tubular e intersticial foram semelhantes em todos os grupos. O escore glomerular foi significativamente maior no grupo SN em comparação com o grupo controle e diminuiu significativamente no grupo de tratamento em comparação com o grupo SN. Conclusões: Estresse oxidativo na SN pode ser devido à diminuição do mecanismo de proteção antioxidante nos rins. O octreotide melhora níveis de antioxidantes e histologia do tecido renal e pode ser uma opção de tratamento.

Atypical evolution of collapsing FSGS in extreme elderly: case report / Evolução atípica de GESF Colapsante na velhice extrema: relato de caso

Introduction: Segmental and Focal Glomerulosclerosis (FSGS) is an entity characterized by glomerular damage involving the podocyte as the main target. A variant with a worse prognosis, poor response to corticosteroid therapy, and rapid progression to end-stage renal disease is recognized as collapsing FSGS. Case Report: A 102-year-old man with nephrotic syndrome and acute kidney injury underwent renal biopsy, revealing collapsing FSGS. He achieved an excellent response to immunosuppressive treatment, presenting renal recovery, and was discharged from dialysis treatment. Discussion: Diagnosis and definition of treatment in the elderly are challenging, and each case must be individualized and have functionality and risk assessed in a naturally immunosuppressed population.

Introdução: Glomeruloesclerose Segmentar e Focal (GESF) é uma entidade caracterizada por lesão glomerular que envolve o podócito como principal alvo. Uma variante de pior prognóstico, baixa resposta à corticoterapia, e rápida evolução para doença renal terminal é reconhecida como GESF colapsante. Relato de Caso: Um homem de 102 anos com síndrome nefrótica e lesão renal aguda foi submetido a biópsia renal, revelando GESF colapsante. Ele obteve excelente resposta ao tratamento imunossupressor, apresentando recuperação renal e recebendo alta de terapia renal substitutiva. Discussão: Diagnóstico e definição de tratamento nos idosos são desafiadores, devendo-se individualizar cada caso, avaliar funcionalidade e risco em uma população naturalmente imunossupressa.

Research Progress of Monogenic Mutation in the Pathogenesis of Steroid-Resistant Nephrotic Syndrome / 罕见病研究

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.

Genotype-Phenotype Correlation Analysis of WT1 Gene Variants in Denys-Drash Syndrome and Frasier Syndrome / 罕见病研究

ObjectiveThis study aims to explore the association between different genotypes of WT1 gene variations and the phenotypes of Denys-Drash syndrome (DDS) and Frasier syndrome (FS).MethodsThrough searching and summarizing the case information of WT1 gene variations recorded in NCBI PubMed and CNKI databases from January 1, 1991 to October 31, 2023, we analyzed the association between variation types, occurrence locations, and phenotypes such as progressive renal function impairment, genitourinary developmental abnormalities, nephroblastoma, and gonadal tumors between DDS and FS.ResultsA total of 128 articles, including 304 subjects, were included in this study, and 86 pathogenic variations of the WT1 gene were detected.The distribution characteristics of these variations were as follows: the most common occurrence was in exon 9(24/86, 27.9%) and exon 8 (23/86, 26.7%); the most common variation type was missense mutation(51/86, 59.3%), followed by splice site mutation (13/86, 15.1%).The disease types caused by WT1 gene variations were as follows: DDS had the highest number of cases (174/304, 57.2%), followed by FS (83/304, 27.3%); DDS was mainly caused by missense mutations on exon 9 and exon 8 (143/174, 82.2%), while FS was mainly caused by splice site mutations on intron 9 (76/83, 91.6%).ConclusionsThe missense variants in exon 9 and exon 8 on the WT1 gene mainly resulted in DDS, while the splice variants in intron 9 mainly resulted in FS. Infants and children with progressive renal injury should undergo a comprehensive evaluation of the genitourinary system, and early genetic diagnosis should be established to improve prognosis.

Blood concentration monitoring of tacrolimus in patients with nephrotic syndrome and establishment of MLP prediction model / 中国药房

OBJECTIVE To investigate the monitoring of tacrolimus blood concentration in patients with nephrotic syndrome （NS），and to establish a prediction model for tacrolimus blood concentration. METHODS Data from 509 concentration monitoring sessions of 166 NS patients using tacrolimus were collected from January 1， 2020 to August 31， 2023 in Zhongshan Hospital Affiliated to Xiamen University. The relationship of efficacy and adverse drug reaction（ADR） with blood concentration was analyzed. A multilayer perceptron （MLP） prediction model was established by using the blood concentration monitoring data of 302 times from 109 NS patients with genetic information， and then verified. RESULTS In terms of efficacy， the median blood concentration of tacrolimus in the non-remission group was 2.20 ng/mL， which was significantly lower than that in the partial remission group （4.00 ng/mL， P＜0.001） and the complete remission group （3.60 ng/mL， P＝0.002）. In terms of ADR， the median blood concentration of tacrolimus in the ADR group was 5.01 ng/mL， which was significantly higher than that in the non-ADR group （3.37 ng/mL） （P＝0.001）. According to the subgroup analysis of the receiver operating characteristic curve， when the blood concentration of tacrolimus was ≥6.65 ng/mL， patients were more likely to develop elevated blood creatinine [area under the curve （AUC） was 0.764， P＜0.001）； when the blood concentration of tacrolimus was ≥6.55 ng/mL， patients were more likely to develop blood glucose （AUC＝0.615， P＝ 0.005）. The established MLP prediction model has a loss function of 0.9， with an average absolute error of 0.279 5 ng/mL between the predicted and measured values. The determination coefficient of the validation scatter plot was 0.984， indicating an excellent predictive performance of the model. CONCLUSION Tacrolimus blood concentration has an impact on both efficacy and ADR in NS patients. The use of the MLP model for predicting blood concentration exhibits high accuracy with minimal error between predicted and measured values. The model can be used as an important tool in clinical individualized medication regimens.

Microbiota intestinal y síndrome nefrótico idiopático

Introducción: En los últimos años muchas investigaciones han demostrado la interrelación entre la microbiota intestinal y las enfermedades inmunomediadas, incluidas las glomerulopatías primarias. Objetivo: Revisar las principales investigaciones que han demostrado la interrelación entre la disbiosis de la microbiota intestinal y las glomerulopatías primarias, en particular el síndrome nefrótico idiopático. Métodos: Se consultó la bibliografía de los últimos 15 años, en español e inglés, en las bases de datos PubMed, SciELO, Cochrane y Lilacs. Se utilizaron los términos microbiota intestinal, disbiosis, probióticos, enfermedad renal crónica y síndrome nefrótico idiopático. Resultados: Las fuentes consultadas demuestran que existe suficiente evidencia de que la disbiosis de la microbiota intestinal desempeña una función importante en el inicio y las recaídas del síndrome nefrótico idiopático. Conclusiones: Los estudios sobre la disbiosis en la enfermedad renal crónica y el síndrome nefrótico idiopático indican la necesidad de seguir investigando, pues habrá que emplear nuevas medidas terapéuticas en un futuro cercano.

Introduction: In recent years, many researches have proved the interrelationship between the intestinal microbiota and immune-mediated diseases, including primary glomerulopathies. Objective: To review the main investigations that have proved the interrelation between intestinal microbiota dysbiosis and primary glomerulopathies, particularly idiopathic nephrotic syndrome. Methods: The bibliography of the last 15 years was consulted, in Spanish and English, in PubMed, SciELO, Cochrane and Lilacs databases. The terms intestinal microbiota, dysbiosis, probiotics, chronic kidney disease, and idiopathic nephrotic syndrome were used. Results: The sources consulted proved that there is sufficient evidence that dysbiosis of the intestinal microbiota plays an important role in the onset and relapses of idiopathic nephrotic syndrome. Conclusions: Studies on dysbiosis in chronic kidney disease and idiopathic nephrotic syndrome indicate the need for further research, as new therapeutic measures will have to be used in the near future.

Effect and influencing factors of Rituximab in the treatment of children with frequently relapsing/steroid-dependent nephrotic syndrome / 中华实用儿科临床杂志

Objective:To investigate the efficacy and safety of Rituximab (RTX) in the treatment of children with frequently relapsing/steroid-dependent nephrotic syndrome (FRNS/SDNS) and to analyze the factors influencing the efficacy.Methods:Case series study.The clinical data of children with FRNS/SDNS who received B-cell-guided RTX (single dose: 375 mg/m 2, maximum dose: 500 mg, one additional dose when peripheral blood CD19 + B lymphocytes ≥0.01) in the First Affiliated Hospital of Zhengzhou University from September 2019 to March 2022 were retrospectively collected.The frequency of relapse and cumulative dose of glucocorticoids before and after RTX treatment were compared.The Kaplan-Meier method was used to analyze relapse-free survival rate and FRNS/SDNS-free survival rate after RTX treatment.The influencing factors of relapse were analyzed using the Cox proportional hazards regression model. Results:Totally 47 children were enrolled, including 35 males and 12 females; the age of first application of RTX was 10.2 (6.9, 13.0) years; 33 children had used one type of immunosuppressant before, and 14 children had used two or more types of immunosuppressant before; the dose of RTX treatment was 3.0 (2.0, 3.0). The frequency of relapse[0(0, 0.55) times/year vs.1.62 (1.09, 2.40) times/year] and cumulative dose of glucocorticoids[0.12 (0.05, 0.21) mg/(kg·d) vs.0.40 (0.20, 0.56) mg/(kg·d)] after RTX treatment significantly decreased compared with previous immunosuppressive treatment ( Z=-5.56, -5.54, all P<0.001). The relapse-free survival rates at 6, 12, 18 and 24 months after treatment were 80.9%, 72.3%, 68.1% and 68.1%, respectively, and the FRNS/SDNS-free survival rates were 93.6%, 89.4%, 89.4% and 89.4%, respectively.Univariate Cox regression analysis showed that the high frequency of relapse during previous immunosuppressive therapy was a risk factor for relapse after RTX treatment ( P<0.05). Of the 14 children who relapsed, 6 occurred in children whose CD19 + B lymphocytes<0.01, and the frequency of relapse after RTX treatment was significantly higher than those whose CD19 + B lymphocytes≥0.01 ( Z=-2.84, P=0.005). No severe adverse reactions occurred during RTX treatment and follow-up. Conclusions:The B-cell-guided RTX is effective and safe in the treatment of FRNS/SDNS in children.The high frequency of relapse during previous immunosuppressive therapy is a risk factor for relapse after RTX treatment, and relapse in the state of B lymphocyte depletion predicts poor outcomes of RTX treatment.

Pharmaceutical Care for Tacrolimus-associated Posterior Reversible Encephalopathy Syndrome in A Pediatric Patient with Nephrotic Syndrome / 医药导报

Objective To present a pharmaceutical care case of a pediatric patient with nephrotic syndrome developing tacrolimus-inducedposterior reversible encephalopathy syndrome(PRES)during tacrolimus treatment,and to accumulate experience for the treatment and pharmaceutical services of related diseases.Methods Clinical pharmacists conduct an analysis and evaluation of the correlation of drug-induced PRES caused by tacrolimus in a pediatric patient.Simultaneously,regarding the latest evidence-based information,they propose optimized drug therapy recommendations and provide personalized pharmaceutical services.Results After treatment with antispasmodics,blood pressure control,intracranial pressure reduction,and tapering of tacrolimus,the clinical symptoms of the child improved.Follow-up cranial MRI demonstrated partial absorption of abnormal signals in the brain,and the lesions were significantly smaller than before.Conclusion For tacrolimus-related PRES,clinical pharmacists can enhance the long-term safety and effectiveness of patient medication through aspects such as choosing antihypertensive drugs,adjusting treatment plans based on drug concentration monitoring,and implementing targeted pharmaceutical monitoring and educatio.

Clinical features and initial outcomes in elderly patients with idiopathic membranous nephropathy / 中华老年医学杂志

Objective:The purpose of this study was to examine the clinical features and initial treatment outcomes of elderly individuals with idiopathic membranous nephropathy.Methods:This study retrospectively analyzed the clinical characteristics and therapeutic effect of hospitalized patients aged 60 years or older with renal-biopsy-proven idiopathic membranous nephropathy for at least one year.Results:This study enrolled a total of 91 elderly patients with IMN, consisting of 51 males(56.0%)and 40 females(44.0%). The median age of the patients was 67 years.The urinary protein creatinine ratio(uPCR)and urinary albumin creatinine ratio(uACR)of the patients were 4 454.3 mg/g and 2 258.5 mg/g, respectively.The median 24-hour urinary protein and urinary albumin levels were 5 098.2 mg/24 h and 2 800.6 mg/24 h, respectively.The average estimated glomerular filtration rate(eGFR)was(60.5±20.4)ml·min -1·1.73 m -2.Out of the total of 61 patients, 67.0% achieved remission, including complete and partial remission, within a year of renal biopsy.The levels of uPCR and uACR were significantly higher in the non-remission group compared to the remission group(5 462.5 vs.2 271.1 mg/g, P<0.001; 2 774.4 vs.1 320.0 mg/g, P=0.001). Additionally, the levels of 24h urinary protein and urinary albumin were significantly higher in the non-remission group compared to the remission group(6 526.4 vs.3 210.4 mg/g, P=0.002; 3 067.7 vs.2 102.4 mg/g, P=0.007). The remission group had a higher proportion of patients receiving immunosuppressive therapy(85.2% vs.33.3%, P<0.001). The remission rates were higher in patients treated with glucocorticoid combined with cyclophosphamide, glucocorticoid combined with calcineurin inhibitors, or glucocorticoid combined with mycophenolate mofetil compared to those receiving conservative treatment(88.2% vs.31.0%, P=0.001; 80.0% vs.31.0%, P<0.001; 100.0% vs.31.0%, P=0.007). There was no significant difference in remission rate between the three immunosuppressive therapy groups( P>0.05). However, upon further analysis, it was found that the levels of uPCR, uACR, and serum cystatin C(CysC)were higher in the immunosuppressive therapy groups compared to conservative treatment.Additionally, serum total protein and albumin were lower in the immunosuppressive therapy groups, and these differences were statistically significant( P<0.05). Conclusions:The majority of elderly patients diagnosed with IMN have multiple comorbidities.For those at high risk with elevated urinary protein levels, early initiation of immunosuppressive therapy may lead to a higher initial urinary protein remission rate.Therefore, it is advisable to develop individualized treatment plans for elderly patients with IMN based on their clinical characteristics, as well as the risks and benefits associated with immunosuppressive therapy.

Spinal cord abscess caused by Nocardia cyriacigeorgica: a case report and literature review / 中华神经科杂志

A case of spinal cord abscess caused by Nocardia cyriacigeorgica is reported. The patient is an elderly man with a history of nephritic syndrome who presented with aggravating lower back pain and then gradually developed urinary retention, weakness and numbness in both lower extremities. Operative intervention was performed, and postoperative pathological findings suggested spinal cord abscess formation. Metagenomic next-generation sequencing of the cerebrospinal fluid identified Nocardia cyriacigeorgica as the causative pathogen. Although appropriate antibiotics were prescribed, the patient died 3 months later.

Refractory Edema of Nephrotic Syndrome Treated by Acupuncture based on the Principle of “When Swelling is Below the Waist， Urination should be Induced”： A Case Report / 中医杂志

Edema is one of the typical symptoms of nephrotic syndrome， and symptomatic diuretics is mainly used in clinical practice but with unstable effect. This paper reported a case of refractory edema of nephrotic syndrome treated by acupuncture. The patient was mainly manifested as edema in both lower limbs， which were sunken when pressed and difficult to recover. After symptomatic treatment with western medicine， the effect was not obvious. In traditional Chinese medicine， this patient was diagnosed as spleen-kidney depletion and water-dampness internal accumulation syndrome. Based on the principle of “when swelling is below the waist， urination should be induced” in ZHANG Zhongjing's Essentials from the Golden Cabinet （《金匮要略》）， it is recommended to puncture at Shuidao （ST 28） and Shuifen （CV 9） to promote urination， at Sanyinjiao （SP 6）， Lougu （SP 7）， Yinlingquan （SP 9） and Zusanli （ST 36） to fortify the spleen and boost the kidneys and treat the root and branch simultaneously. After 3-day treatment， urine becomes smooth， and the edema of both lower limbs disappeared.

Research Progress of Monogenic Mutation in the Pathogenesis of Steroid-Resistant Nephrotic Syndrome / 罕见病研究

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.

Genotype-Phenotype Correlation Analysis of WT1 Gene Variants in Denys-Drash Syndrome and Frasier Syndrome / 罕见病研究

ObjectiveThis study aims to explore the association between different genotypes of WT1 gene variations and the phenotypes of Denys-Drash syndrome (DDS) and Frasier syndrome (FS).MethodsThrough searching and summarizing the case information of WT1 gene variations recorded in NCBI PubMed and CNKI databases from January 1, 1991 to October 31, 2023, we analyzed the association between variation types, occurrence locations, and phenotypes such as progressive renal function impairment, genitourinary developmental abnormalities, nephroblastoma, and gonadal tumors between DDS and FS.ResultsA total of 128 articles, including 304 subjects, were included in this study, and 86 pathogenic variations of the WT1 gene were detected.The distribution characteristics of these variations were as follows: the most common occurrence was in exon 9(24/86, 27.9%) and exon 8 (23/86, 26.7%); the most common variation type was missense mutation(51/86, 59.3%), followed by splice site mutation (13/86, 15.1%).The disease types caused by WT1 gene variations were as follows: DDS had the highest number of cases (174/304, 57.2%), followed by FS (83/304, 27.3%); DDS was mainly caused by missense mutations on exon 9 and exon 8 (143/174, 82.2%), while FS was mainly caused by splice site mutations on intron 9 (76/83, 91.6%).ConclusionsThe missense variants in exon 9 and exon 8 on the WT1 gene mainly resulted in DDS, while the splice variants in intron 9 mainly resulted in FS. Infants and children with progressive renal injury should undergo a comprehensive evaluation of the genitourinary system, and early genetic diagnosis should be established to improve prognosis.

Application of machine learning in individualized medication of tacrolimus in patients with nephrotic syndrome / 药学实践与服务

Tacrolimus is a commonly used medication for the treatment of nephrotic syndrome. Due to its narrow therapeutic window and significant pharmacokinetic differences among individuals, therapeutic drug monitoring is required during its clinical use. In the process of therapeutic drug monitoring, machine learning-based personalized dosing prediction models for tacrolimus can excavate medication patterns from a large amount of clinical data, assist in clinical decision-making, and achieve individualized precise medication. Machine learning models, the application progress of machine learning in personalized administration of tacrolimus for patients with nephrotic syndrome, modeling points of machine learning prediction models, and the limitations of current prediction models were reviewed in this paper, which could provide references for future research in this field.

The clinical value of 99mTc-DTPA renal dynamic imaging in evaluating AKI in early adult PNS patients / 中国现代医生

@#Objective To explore the clinical value of 99mTc-diethylenetriaminepentaacetic acid(DTPA)renal dynamic imaging in evaluating renal tubulointerstitial injury in early adult primary nephrotic syndrome(PNS)patients.Methods A total of 42 early adult PNS patients were selected as case group,and the diagnostic efficacy of 99mTc-DTPA renal dynamic imaging quantitative indicators and biochemical indicators of serum creatinine(SCr),blood urea nitrogen(BUN),blood uric acid(UA),blood retinol-binding protein(RBP),and blood β2-microglobulin(β2-MG)levels in renal tubulointerstitial injury was analyzed based on pathological results with or without renal interstitial injury as the standard.Results ①The total glomerular filtration rate(GFR),left kidney GFR and right kidney GFR were negatively correlated with blood SCr,BUN and β2-MG levels of patients in case group.②The diagnostic efficiency of total GFR in diagnosis of tubulointerstitial injury in early adult PNS patients is better than that of blood SCr,BUN and β2-MG,total GFR combined with time to peak(Tp),half discharge time(T1/2)and 20 minute residual rate(R20/p)can improve the diagnostic efficiency.Conclusion 99mTc-DTPA renal dynamic imaging is helpful in early diagnosis of tubulointerstitial injury in early adult PNS patients.

Influencing factors and hormone resistance of 510 children with nephrotic syndrome / 公共卫生与预防医学

Objective To investigate the hormone resistance and analyze its influencing factors in 510 children with nephrotic syndrome. Methods The clinical data of 510 children with primary nephrotic syndrome admitted to our hospital from January 2019 to August 2023 were retrospectively collected and analyzed. After 8 weeks of continuous treatment with conventional full-dose prednisone, urine protein detection was performed. Urine protein (+-+++) was listed as drug-resistant group, and urine protein (-) was regarded as control group. The general data, pathological types, and laboratory indicators were compared. Univariate analysis and Logistic regression analysis were used to screen the risk factors for hormone resistance in children with nephrotic syndrome. Results (1) After the end of 8 weeks of treatment, among the 510 children, there were 19 children with urine protein (+), 22 children with urine protein (++), 12 children with urinary protein (+++) and 457 children with urine protein (-). The total number of children with hormone resistance (drug-resistant group) was 53 cases (10.39%, 53/510), and the number of children with hormone sensitivity (control group) was 457 cases (89.61%, 457/510). (2) The proportions of children with onset age>8 years old and pathological type of focal stage glomerulosclerosis in drug-resistant group were higher than those in control group (P8, serum creatinine, D-dimer and β2-microglobulin, and low 25-hydroxyvitamin and CD4 at disease onset were risk factors for hormone resistance in children with nephrotic syndrome (P8, serum creatinine, D-dimer and β2-microglobulin and low 25-hydroxyvitamin and CD4 at disease onset, it is necessary to take targeted anticoagulation, immune regulation and other treatments as soon as possible in order to achieve the best efficacy and improve the prognosis.