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disease: Adolescent nephronophthisis

id5620
nameAdolescent nephronophthisis
descriptionThe nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recongnized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/ adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-L√łken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
variant-disease NM_153240.4(NPHP3):c.2369T>C (p.Leu790Pro) AND Adolescent nephronophthisis
NM_153240.4(NPHP3):c.3373C>T (p.Arg1125Ter) AND Adolescent nephronophthisis
NM_153240.4(NPHP3):c.1381G>T (p.Glu461Ter) AND Adolescent nephronophthisis
NM_153240.4(NPHP3):c.2104C>T (p.Arg702Ter) AND Adolescent nephronophthisis
NM_153240.4(NPHP3):c.1729C>T (p.Arg577Ter) AND Adolescent nephronophthisis
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