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DOI 10.4314/ejhs.v35i1.10

Медицинская библиотека · Ethiopian journal of health sciences · 2025

Alport Syndrome May contribute to Grand Multiparity in a Typical Low Income Setting.

Ogala-Akogwu Victoria I, Uduagbamen Peter K, Anteyi Emmauuel A, Galadanci Habib A

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Аннотация

Alport syndrome (AS) is a rare, inherited disorder affecting the basement membranes of the glomerulus, cochlea, and lens. It presents with visual and hearing deficits, as well as kidney disease, which can progress to end-stage renal failure and death. A 26-year-old male presented with a three-week history of body swelling, foamy urine, worsening hematuria, and hearing and visual impairments of 17- and 10-years' duration, respectively. Three of his siblings (two males and one female) had similar symptoms. Molecular genetic screening, involving children from the two wives, identified a pathogenic mutation in the COL4A5 gene, confirming X-linked AS in the patient and his three maternal siblings. The patient underwent maintenance hemodialysis (HD), followed by two failed living-related kidney transplants, and died in his sleep a year after the second transplant, hours after a routine dialysis session. Multiple deaths from AS within a family can contribute to grand multiparity, particularly in low-income settings.

Для цитирования: Ogala-Akogwu Victoria I, Uduagbamen Peter K, Anteyi Emmauuel A, Galadanci Habib A. Alport Syndrome May contribute to Grand Multiparity in a Typical Low Income Setting.. Ethiopian journal of health sciences. 2025. DOI: 10.4314/ejhs.v35i1.10.

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