Long-term outcome among females with Alport syndrome from a single pediatric center

Selasie Goka, Lawrence Copelovitch, Daniella Levy Erez

Research output: Contribution to journalArticlepeer-review

Abstract

Background: 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. Methods: A single-center retrospective study of all young females with AS between January 1, 1987, and May 20, 2019. Subjects were identified using ICD-9/10 diagnosis codes for AS, familial hematuria, or nephritis. Clinical data were extracted by retrospective chart review. Results: Thirty-six female patients were included in the analysis. Mean age at presentation was 5.58 ± 3.0 years, and mean follow-up was 5.9 ± 3.9 years. Twenty-nine patients (80%) had a family history of AS. At end of the follow-up period, gross hematuria was observed in 15 patients (42%), 20 (56%) developed proteinuria, and 2 (6.7%) had an estimated glomerular filtration rate (eGFR) < 90 ml/min/1.73m2 with one patient developing stage 5 chronic kidney disease. Four of the twenty-seven (14.8%) who underwent audiologic testing had an abnormal exam. Conclusions: Known family histories of AS or gross hematuria were the most common reasons for the initial presentation in our cohort. Development of proteinuria, eGFR < 90 ml/min/1.73m2, and abnormal audiology exam are not exceptional findings, suggesting that close monitoring of young females into adulthood is warranted.

Original languageEnglish
Pages (from-to)945-951
Number of pages7
JournalPediatric Nephrology
Volume36
Issue number4
DOIs
StatePublished - Apr 2021
Externally publishedYes

Keywords

  • Alport syndrome
  • Female
  • Hereditary nephritis
  • Pediatric

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