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https://doi.org/10.1002/humu.24309

has been cited by the following article:

• TITLE: A Rare Case of Autosomal Recessive Alport Syndrome Due to Mutation in COL 4A4 Gene with 1 Base Pair Duplication of Cytosine Nucleotide—A Rare Mutation in Alport Syndrome

  AUTHORS: Kamel El-Reshaid, Shaikha Al-Bader

  KEYWORDS: Alport Syndrome, Angiotensin Converting Enzyme Inhibitors, Genetic Testing, Microscopic Hematuria

  JOURNAL NAME: Open Journal of Nephrology, Vol.15 No.2, June 12, 2025

  ABSTRACT: Background: Alport syndrome (AS) is a rare genetic disorder due to mutations in type IV collagen genes. The case: A 16-year-old boy was referred for management of moderate renal disease and hypertension that was disclosed after routine testing for sensorineural deafness. Laboratory tests showed serum creatinine at 200 umol/L, microscopic hematuria and proteinuria at 2.6 g/day. Diagnosis of Alport syndrome (AS) was established by kidney biopsy and genetic testing that disclosed a rare AS-mutation. The biopsy showed focal and segmental glomerulosclerosis, without deposits on immunofluorescent stains, and abnormal glomerular basement membrane with a basket-weave appearance on electron microscopy. Genetic testing showed homozygous frameshift insertion in COL4A4 gene that consisted of 1 base pair duplication of cytosine nucleotide resulting in splice-site changes. Genetic testing of both parents did not show abnormality, indicating a new mutation in this patient. He was treated with Ramipril 5 mg daily and diet low in salt and protein. By 1 year later; he remained stable with serum creatinine at 219 umol/L, albumin at 39 g/L and protein excretion at 450 mg/day. Conclusion: AS can evolve due to new cytosine mutations in aggressive renal disease that can be ameliorated with angiotensin-converting enzyme inhibitors.