Open AccessLong-term outcome among females with Alport syndrome from a single pediatric center
Author(s) -
Selasie Goka,
Lawrence Copelovitch,
Daniella Levy Erez
Publication year - 2020
Publication title -
pediatric nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.831
H-Index - 107
eISSN - 1432-198X
pISSN - 0931-041X
DOI - 10.1007/s00467-020-04748-4
Subject(s) - medicine , proteinuria , retrospective cohort study , pediatrics , cohort , alport syndrome , family history , kidney disease , nephritis , nephrology , kidney , glomerulonephritis
Alport syndrome (AS) is a multisystem condition which can result in progressive kidney disease, hearing loss, and ocular changes. X-linked inheritance is observed in 85% of affected individuals. As a result, most prior studies have focused on males. Girls with AS can also be symptomatic although historically thought to have few clinical manifestations in childhood. The objective of the study was to describe the clinical presentation and course of females with AS.