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

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