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

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

PMC · DOI: 10.4314/ejhs.v35i1.10 · 2025-01-01

## TL;DR

A family with multiple cases of Alport Syndrome in a low-income setting may lead to grand multiparity due to the disease's severe health impacts.

## Contribution

The paper highlights the potential link between Alport Syndrome and grand multiparity in low-income settings.

## Key findings

- A pathogenic mutation in the COL4A5 gene confirmed X-linked Alport Syndrome in the patient and his siblings.
- The patient's condition led to multiple kidney transplants and ultimately death.
- Alport Syndrome's impact on family health can contribute to grand multiparity in low-income areas.

## Abstract

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.

## Linked entities

- **Genes:** COL4A5 (collagen type IV alpha 5 chain) [NCBI Gene 1287]
- **Diseases:** Alport Syndrome (MONDO:0018965), end-stage renal failure (MONDO:0004375)

## Full-text entities

- **Genes:** COL4A5 (collagen type IV alpha 5 chain) [NCBI Gene 1287] {aka ASLN, ATS, ATS1, CA54}
- **Diseases:** death (MESH:D003643), end-stage renal failure (MESH:D007676), hematuria (MESH:D006417), kidney disease (MESH:D007674), inherited disorder (MESH:D030342), swelling (MESH:D004487), hearing and visual impairments (MESH:D006311), AS (MESH:D009394)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC11837797/full.md

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Source: https://tomesphere.com/paper/PMC11837797