A case of glomerulocystic kidney disease associated with hypothyroidism in man

Glomerulocystic kidney (GCK), a rare disease mostly seen in infants and small children, is characterized by dilatation of Bowman's space. We report about a 32-year-old Japanese male with GCK. Although radiologic studies including computed tomography of the kidneys failed to show cysts in the corticomedullary regions, renal biopsy specimens revealed diffuse glomerular cystic lesions. Extrarenal malformations were not determined, but the patient was found to have hypothyroidism presumably due to a functional disorder of the hypothalamus (tertiary hypothyroidism). This is probably the fifth documented case of the disease in an adult. To our best knowledge, the association with hypothyroidism is rare. Although its pathogenic relevance to GCK is unknown, the endocrine dysfunction seems to have occurred as part of the extrarenal conditions of GCK, which calls further attention to this entity.