Long-term outcome among females with Alport syndrome from a single pediatric center
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ORIGINAL ARTICLE
Long-term outcome among females with Alport syndrome from a single pediatric center Selasie Goka 1,2 & Lawrence Copelovitch 1,2 & Daniella Levy Erez 1,2 Received: 16 June 2020 / Revised: 23 July 2020 / Accepted: 27 August 2020 # IPNA 2020
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 followup 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. Keywords Alport syndrome . Female . Pediatric . Hereditary nephritis
Introduction Alport syndrome (AS) is a rare genetic disease with an incidence of 1 in 5–10,000 [1]. It is a multisystem disease which may include ocular manifestations, sensorineural hearing loss, esophageal leiomatosis, and progressive kidney disease. The kidney disease often presents with recurrent episodes of gross hematuria and generally progresses to stage 5 chronic kidney disease (CKD 5) in males [2–4]. AS is caused by mutations in any one of the three genes that encode the alpha chain components of the collagen α3α4α5 (IV) heterotrimer: COL4A3, * Daniella Levy Erez [email protected] 1
Nephrology Division, Children’s Hospital of Philadelphia, 34th Street and Civic Center Blvd, Philadelphia, PA 19004, USA
2
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
COL4A4, and COL4A5. The collagen α3α4α5 (IV) heterotrimer forms a network that is a major component of the kidney glomerular basement membrane (GBM) and basement membranes in the cochlea and eye [2–4]. AS can be inherited in an X-linked pattern (XLAS) and is associated with mutations i
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