RESUMEN
Heterozygous hepatocyte nuclear factor-1-α gene (
Asunto(s)
Síndrome de Dandy-Walker/genética , Diabetes Mellitus Tipo 2/genética , Eliminación de Gen , Factor Nuclear 1-alfa del Hepatocito/genética , Enfermedades Renales Quísticas/genética , Niño , Hibridación Genómica Comparativa , Femenino , Estudios de Asociación Genética , Humanos , MutaciónAsunto(s)
Infecciones por Coxsackievirus , Enterovirus , Síndrome Mucocutáneo Linfonodular , Anticuerpos Antivirales , Infecciones por Coxsackievirus/complicaciones , Infecciones por Coxsackievirus/diagnóstico , Humanos , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/diagnósticoRESUMEN
IgA nephropathy (IgAN), the most prevalent primary chronic glomerulonephritis worldwide, has three major risk factors: hypertension, proteinuria >1 g/day, and severe renal lesions. Obesity also portends a poor prognosis. A Japanese boy with IgAN showed nephrotic syndrome at presentation. Pathological features resembled those of membranoproliferative glomerulonephritis (MPGN), although IgA deposition differed from MPGN and IgAN. Combination therapy improved renal lesions, but rebound deterioration of proteinuria occurred in this patient, who had marked obesity and hypertension. Serial kidney biopsy specimens were compatible with obesity-related glomerulopathy (ORG). Rebound proteinuria was apparently attributable to ORG rather than relapse and flaring up of IgAN.
RESUMEN
X-Linked thrombocytopenia (XLT) is characterized by congenital thrombocytopenia with small platelets and absence of immunodeficiency; XLT is an allelic variant of Wiskott-Aldrich syndrome (WAS). Both entities are caused by mutations in the same gene. This study presents the case of an 8-year-old boy with XLT. He developed immunoglobulin A (IgA) nephropathy at the age of 4 years. Genetic analysis confirmed the XLT diagnosis. His maternal uncle also had thrombocytopenia from early infancy and developed end-stage renal failure as a result of IgA nephropathy. The maternal uncle was inferred to be affected with XLT because of the carrier status of the patient's mother. Abnormal glycosylation has a role in pathogenesis in IgA nephropathy; moreover, sialophorin glycosylation is defective in WAS. Altered glycosylation may contribute to renal involvement in patients with WAS/XLT despite different defective glycosylation patterns in IgA nephropathy and WAS/XLT.
Asunto(s)
Enfermedades Genéticas Ligadas al Cromosoma X/fisiopatología , Glomerulonefritis por IGA/genética , Trombocitopenia/genética , Síndrome de Wiskott-Aldrich/fisiopatología , Niño , Glicosilación , Humanos , MasculinoAsunto(s)
Hematuria/diagnóstico , Síndrome Nefrótico/diagnóstico , Deportes/clasificación , Deportes/fisiología , Pueblo Asiatico , Niño , Femenino , Humanos , JapónAsunto(s)
Anomalías Múltiples , Hematuria/etiología , Adolescente , Ano Imperforado/complicaciones , Atresia Esofágica/complicaciones , Dedos/anomalías , Humanos , Hidronefrosis/complicaciones , Riñón/anomalías , Masculino , Polidactilia/complicaciones , Remisión Espontánea , Costillas/anomalías , Factores de Riesgo , Síndrome , Vértebras Torácicas/anomalías , Fístula Traqueoesofágica/complicacionesRESUMEN
Wilms' tumor (WT), also called nephroblastoma, is an embryonic neoplasm of the developing kidney. A previously healthy Japanese female infant had WT in a single kidney without associated congenital malformations. Preoperative chemotherapy was started for the preservation of renal tissue and function. Tumor lysis syndrome, disseminated intravascular coagulopathy, and acute renal failure were accompanying. The infant needed surgical intervention and permanent replacement therapy. At the start of emergency hemodialysis, the infant had posterior reversible leukoencephalopathy syndrome because of severe hypertension. During ongoing peritoneal dialysis, the infant suffered from anemia, dietary and fluid restriction, and restriction of time and mobility. Despite alfacalcidol and calcium supplementation, the infant had secondary hyperparathyroidism and remarkably short stature. After waiting for the completion of chemotherapy, renal transplantation from the mother was completed. Successful kidney transplantation promptly corrected preexisting metabolic abnormalities causing secondary hyperparathyroidism. Subsequently, the infant often complained of headache. Computed tomographic scanning revealed calcification in the cerebellum. Refractory secondary hyperparathyroidism was inferred as the cause. A well-functioning graft provided the infant with a greater sense of well-being and enabled her to enjoy a lifestyle free of dialysis, although the infant must continue taking transplant medications and has retained unresolved issues of short stature and ectopic intracranial calcification.
RESUMEN
We describe an 8-year-old boy who presented with steroid-resistant nephrotic syndrome (SRNS) associated with X-linked ichthyosis (XLI). At birth, the patient exhibited scaly skin, cryptorchidism, and steroid sulfatase (STS) deficiency. DNA analysis showed deletion of exons 1-10 of the STS gene. Proteinuria developed at 6 years and was resistant to steroid therapy. Kidney biopsy findings prior to steroid therapy were compatible with minimal change nephrotic syndrome. By immunofluorescence, glomerular basement membranes exhibited diffuse linear staining for the alpha5 chain of collagen IV, making X-linked Alport syndrome an unlikely explanation for the association of SRNS and ichthyosis. Despite immunosuppressive therapy together with oral prednisolone, no clinical response was achieved. He rapidly reached end-stage renal failure and finally underwent renal transplantation. We propose that SRNS should be considered as one of the highly variable phenotypes associated with XLI.
Asunto(s)
Ictiosis Ligada al Cromosoma X/complicaciones , Fallo Renal Crónico/complicaciones , Biopsia , Niño , Glomeruloesclerosis Focal y Segmentaria/complicaciones , Glomeruloesclerosis Focal y Segmentaria/patología , Glomeruloesclerosis Focal y Segmentaria/cirugía , Humanos , Ictiosis Ligada al Cromosoma X/genética , Ictiosis Ligada al Cromosoma X/patología , Fallo Renal Crónico/patología , Fallo Renal Crónico/cirugía , Trasplante de Riñón , Masculino , Esteril-Sulfatasa/genéticaRESUMEN
A 7-month-old boy with a solitary kidney showed recurrent urinary tract infection. Magnetic resonance urography helps in the identification of vesicoureteral junction obstruction associated with unilateral renal agenesis.