Hereditary Osteolysis With Hypertension and Nephropathy

Abstract

A dominant form of "arthritis" was studied intensively in three members of a sibship with 11 involved members. The "arthritis" is manifested by clinical symptoms of heat, tenderness, and swelling of the joints in childhood, followed by a period of progressive collapse and osteolysis of the carpal and tarsal bones, and finally terminating with extrusion of the involved bones through the volar surfaces of the involved joints. Numerous biochemical studies have been reported with a failure to define the suspected single metabolic error. Biopsy and other laboratory tests indicate an absence of an inflammatory process. Arteriolar thickening was found in all tissues biopsied. Hypertension and abnormal cellular elements found in a high percentage of the involved patients suggest a systemic disorder being manifested primarily by vascular involvement.