title: Alport syndrome: a rare cause of uraemia.
abstract: Alport syndrome (AS) is a heterogeneous basement membrane disease characterised by haematuria with progressive hereditary nephritis, high-frequency sensorineural hearing loss (SNHL) and pathognomonic ocular lesions. It is one of the spectra of diseases representing hereditary nephritis, which inevitably leads to end-stage renal disease (ESRD). Microscopic or frank haematuria persistent from childhood constitutes the clinical clue for its early recognition. It occurs as a result of genetically inherited or de novo mutations in type IV collagen genes. The most common mode of inheritance is X-linked and men are more severely affected. We report a case of a young woman, in her fourth decade of life presenting with overt nephropathy, having persistent haematuria associated with SNHL and lenticonus with dot and fleck retinopathy on detailed clinical examination, diagnosed as a previously undetected case of Alport syndrome.
authors: Department of Medicine, PGIMER, Dr Ram Manohar Lohia Hospital, New Delhi, India.
authors: Soumik
authors: S
authors: Ghosh
authors: Manavdeep
authors: M
authors: Singh
authors: Ratnakar
authors: R
authors: Sahoo
authors: Sachin
authors: S
authors: Rao
mesh_terms: D000328:Adult; D005260:Female; D050533:Glomerular Basement Membrane / Q000648:ultrastructure; D006801:Humans; D009394:Nephritis, Hereditary / Q000150:complications* / Q000175:diagnosis; D012164:Retinal Diseases / Q000209:etiology*; D014511:Uremia / Q000209:etiology*