KIDNEY IN GALLOWAY-MOWAT SYNDROME - CLINICAL SPECTRUM WITH DESCRIPTION OF PATHOLOGY

The Galloway-Mowat syndrome, a rare inherited disorder, is characteriz ed by congenital microcephaly with hypotonia and developmental delay, often hiatus hernia, and nephrotic syndrome manifested in infancy or i n early childhood. The glomerular lesion has been poorly characterized in the few previous reports of this syndrome. We studied three siblin gs with microcephaly and nephrotic syndrome occuring during the first two weeks of life. Hematuria, glycosuria and renal failure were also p resent. Renal biopsy and postmortem specimens of two patients were stu died. Glomerular structure was disorganized; capillary lumina were of varying calibers, capillary walls were adherent to one another, and me sangial zones were poorly demarcated. Glomerular basement membrane ult rastructure was markedly altered. The normal trilaminar structure was obscured or replaced by flocculent material; furthermore, 6 to 8 nm fi brils of unknown nature permeated the space between endothelial and ep ithelial cells. Non-glomerular basement membranes were unaltered in ap pearance. This syndrome apparently represents, in part, a new disorder of glomerular basement membrane formation and function.