Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

Conclusions Although uncommon, the clinical picture of CblC defects may be ruled by nephrotic syndrome mimicking glomerulonephritis, minimal change disease, or primary focal and segmental glomerulosclerosis. Key to a correct diagnosis is elevated serum levels of homocysteine, and a definite diagnosis can be confirmed by genetic testing.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research