RESUMO
BACKGROUND: Congenital and infantile nephrotic syndrome (CNS and INS) are rare inherited defects in glomerular filtration involving a variety of gene mutations. This study aimed to analyze all genetic mutations associated with congenital and infantile nephrotic syndrome treated at our institution. We also discussed our different approach secondary to culture and resources. METHODS: A retrospective single-center study of all children diagnosed as NS before the age of 1 year over a duration of over one decade. RESULTS: Twenty-nine children (12 boys) were included in the study. Their median age (range) was 2.4 (0.1-12) months (20 CNS and 9 INS). Consanguinity was present in 90% of children. The genetic analysis' results were only available for 20 children. An underlying causative homozygous mutation was detected in 18 children (90%): NPHS1 (9), NPHS2(2), LAMB2(3), PLCE1(1), WT1(1), and ITSN1 novel mutation (2). One child had heterozygous mutation of NPHS2 and another child had heterozygous mutation of NPHS1 which could not explain the disease. All CNS cases were all managed with intermittent intravenous albumin infusion, ACEi, diuretics, and indomethacin. None of the children were managed by nephrectomy followed by peritoneal dialysis (PD) because of limited resources. Only one child achieved partial remission, while 15 children died at a median (range) age of 5.8 (1.25-29) months. The remaining 14 children were followed up for an average of 36 (3.9-120) months. Three children progressed to end-stage kidney disease and PD was performed in only two children. CONCLUSIONS: NPHS1 is the main underlying cause of CNS and INS in our study population. CNS and INS were associated with high morbidity and mortality.
Assuntos
Predisposição Genética para Doença/epidemiologia , Peptídeos e Proteínas de Sinalização Intracelular/genética , Síndrome Nefrótica/genética , Síndrome Nefrótica/terapia , Centros Médicos Acadêmicos , Distribuição por Idade , China , Estudos de Coortes , Terapia Combinada , Progressão da Doença , Feminino , Testes Genéticos/métodos , Humanos , Lactente , Recém-Nascido , Falência Renal Crônica/epidemiologia , Falência Renal Crônica/fisiopatologia , Masculino , Proteínas de Membrana/genética , Mutação , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/epidemiologia , Prevalência , Prognóstico , Estudos Retrospectivos , Medição de Risco , Distribuição por SexoRESUMO
BACKGROUND: Urinary bladder agenesis is a very rare congenital anomaly with very few cases reported in the literature. CASE PRESENTATION: We report a one-month-old baby presenting with ambiguous genitalia and recurrent urinary tract infections. Her clinical course was complicated by renal impairment. Magnetic resonant imaging (MRI) revealed a diagnosis of bladder agenesis with bilateral ectopic insertion of the ureters into the vagina, associated with several other anomalies. The patient underwent bilateral high anterior ureterostomies in an hospital abroad at 5.5 months of age. She then developed ureteral necrosis that had to be corrected with left pyeloplasty and by placing a left nephrostomy tube for drainage. Eventually, the patient's renal function declined, and she developed chronic kidney disease (CKD).The case with its imaging findings and pathogenesis as well as a review of the literature are presented. CONCLUSIONS: Urinary bladder agenesis is a rare congenital condition that can be associated with multiple anomalies. Early diagnosis and therapeutic intervention can prevent progression to chronic kidney disease.
