RENAL-DISEASE IN DOWN-SYNDROME - AUTOPSY STUDY WITH EMPHASIS ON GLOMERULAR-LESIONS

A range of renal diseases have been previously described in patients w ith Down syndrome. With increased survival, it appears that a growing number of these patients present with chronic renal failure. Definitio n of underlying causes of renal failure could potentially lead to prev ention of progressive renal dysfunction in this population. We report two index cases of teenaged Down patients who presented with proteinur ia and focal segmental glomerulosclerosis with hyalinosis, not previou sly described in this population. In addition, autopsy files were revi ewed at the Johns Hopkins Hospital to assess renal and especially glom erular pathology in Down patients. Additional cases, including acute g lomerulonephritis with early crescents and vasculitis, minimal change disease, and membranous nephropathy, were identified; the latter two d iseases had not been previously reported in patients with Down syndrom e. Semiquantitative studies on glomerular changes in all cases examine d through autopsy also were performed. The only pathological finding t hat was significantly more common in the Down syndrome group, compared with age-matched cases from the autopsy files, was cystic dilation of Bowman's space. Histological findings described as increased in the D own population in previously published autopsy studies were also prese nt in the control population, highlighting the need to adequately cont rol such studies. The cases of acquired glomerular disease reported he re were seen largely after the first decade of life. Monitoring of Dow n patients for renal and especially glomerular disease should be done regularly as patients age into the second and third decades. (C) 1998 by the National Kidney Foundation, Inc.