Abstract
Eight Scottish children with nephronophthisis are described. The typical clinical picture is thirst and polyuria associated with severe anaemia, progressive impairment of renal function, and dwarfism. Isosthenuria and gross enlargement of the bladder are usually present. Systemic hypertension is usually absent until the terminal stages. Five of these children are dead and the kidneys have been examined at necropsy. Percutaneous renal biopsy has been carried out on the remainder. The typical morbid anatomical feature is the presence of medullary cysts in small uniformly contracted kidneys. Histologically, the kidney is diffusely affected with extensive sclerosis of glomeruli, periglomerular fibrosis, and obvious hyaline thickening of the tubular basement membrane. The disease progresses inexorably and renal transplantation offers the only longterm solution.