The diagnosis can usually be made on a combination of clinical, family history, and biopsy criteria. Biopsy of kidneys or skin To be helpful, kidney biopsies need to be taken before the disease is too advanced. Changes on conventional (light) microscopy are not characteristic, and the possibility of other diagnoses, particularly focal segmental glomerulosclerosis (FSGS), may be raised. Electron microscopy shows a characteristic sequence of changes from thinning of the glomerular basement membrane (GBM), developing into areas of thinning and thickening, and finally into a complex appearance with apparent splitting, often described as a 'basketweave' appearance. Early or very localised changes on this spectrum are not diagnostic, but the later changes are considered diagnostic. Immunohistochemistry or immunofluorescence studies to identify the COL3-4-5 proteins in GBM can be helpful. However, these studies may be normal in some patients with<unk> , especially milder variants. The skin contains type IV collagen in a '556' network. Skin biopsies have been used to show the absence of the COL4A5 gene product, but these techniques are not straightforward, only apply to patients with severe COL4A5 mutations, and are not widely available. Genetic testing is now a better alternative if kidney biopsy is not possible. Family history A family history of end-stage renal disease with hearing impairment is suggestive of<unk> , but other conditions can cause this combination of abnormalities. Most can be distinguished by clinical features. The finding of haematuria in relatives is suggestive. While X-linked inheritance is the most common pattern, genetic testing is revealing that atypical presentations may be more common than currently thought. Genetic testing Genetic testing plays an increasingly important role in confirming the diagnosis where the clinical features do not amount to proof. Other tests The use of eye examinations for screening has been proposed.
Alport syndrome
Cystic kidney disease
Balkan endemic nephropathy
IgA nephropathy
Uddanam nephropathy
Sickle cell nephropathy
Mesoamerican nephropathy
Malarial nephropathy