{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T17:59:57Z","timestamp":1767981597800,"version":"3.49.0"},"reference-count":21,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,4,3]]},"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:p>Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation of Fabry disease, typically presenting in the fifth decade of life, but is very rare in childhood. Here we present a case of an 11-year-old boy with classical Fabry disease presenting with ESRD requiring haemodialysis and transplant. Diagnosis was confirmed by renal biopsy, <jats:italic>GLA<\/jats:italic> mutation and low alpha-galactosidase A levels. He has an unusual genotype, hemizygous for the c.1000\u201311T&gt;A intronic variant and positive for the pseudodeficiency allele D313Y. Due to the possibility of very early and accelerated disease progression, Fabry disease should be considered as a possible diagnosis in unexplained renal failure in males from a younger age.<\/jats:p>","DOI":"10.1136\/bcr-2021-246682","type":"journal-article","created":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T12:54:37Z","timestamp":1653310477000},"page":"e246682","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Early renal failure in childhood in a male with Fabry disease"],"prefix":"10.1136","volume":"15","author":[{"given":"Josephine Norre","family":"Hogh","sequence":"first","affiliation":[{"name":"University College London Medical School, University College London, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatim","family":"Ebrahim","sequence":"additional","affiliation":[{"name":"Lysomal Disorders Unit, Royal Free London NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shabbir","family":"Moochhala","sequence":"additional","affiliation":[{"name":"UCL Department of Renal Medicine, Royal Free London NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4703-7447","authenticated-orcid":false,"given":"Uma","family":"Ramaswami","sequence":"additional","affiliation":[{"name":"Lysomal Disorders Unit, Royal Free London NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,5,10]]},"reference":[{"key":"2025082712411690000_15.5.e246682.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"2025082712411690000_15.5.e246682.2","doi-asserted-by":"crossref","DOI":"10.3390\/ijms19123726","article-title":"Mutations in the GLA gene and LysoGb3: is it really Anderson-Fabry disease?","volume":"19","author":"Duro","year":"2018","journal-title":"Int J Mol Sci"},{"key":"2025082712411690000_15.5.e246682.3","doi-asserted-by":"crossref","first-page":"96","DOI":"10.2174\/1566523218666180404161315","article-title":"Genetics and gene therapy of Anderson-Fabry disease","volume":"18","author":"Simonetta","year":"2018","journal-title":"Curr Gene Ther"},{"key":"2025082712411690000_15.5.e246682.4","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-017-2609-9"},{"key":"2025082712411690000_15.5.e246682.5","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp528"},{"key":"2025082712411690000_15.5.e246682.6","doi-asserted-by":"crossref","unstructured":"European Medicines Agency . 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