Evidence Suggesting Abnormal Muscle Protein Synthesis and Degradation in Uremia

Abstract

Non-Finnish type congenital nephrosis is uncommon and of heterogen ous etiology. We report congenital nephrosis occurring in monozy gotic twin boys, Family history is otherwise negative for renal disease. The parents are not of Finnish origin and there is no consanguinity. The pregnancy was unremarkable and the placenta not enlarged as in the Finnish variety. At 10 weeks of age both boys presented with diarrhea. The first twin died suddenly in acute renal failure in another hospital; the second was transferred to our care. A diagnosis of congenital nephrosis was made on admission. Rapid deterioration in renal and respiratory function ensued and the infant died at 12 weeks of age. Post-mortem examination revealed microcystic renal disease with glomeruli showing variable and segmental mesangial hypercellularity and sclerosis. The microscopic appearances were most con