A child with familial glomerulonephritis: Answers

Diagnosis of Alport syndrome, is there a role for skin biopsy?

“…The X-linked (COL4A5) Alport syndrome remains the most frequent form and, as reported by Wang and colleagues [2], the immunostaining analysis of α5chain in the epidermal basal membrane from skin fibroblasts gives a mutation detection rate of 83% in males and 93.5% in females heterozygous or with mosaicism for COL4A5 mutation. A pathological skin biopsy could therefore be an indication to perform more specific genetic investigations, as with MLPA technique [3]. The kidney biopsy could therefore be reserved for cases with negative kidney biopsy or with the suspicion of Alport syndrome due to a COL4A3/COL4A4 mutation in which the skin biopsy is not contributive as skin collagen chains are not encoded by these two genes, or again the kidney biopsy could be reserved for cases of COL4A5 mutation not detected by the skin biopsy.…”