Combination of fibromuscular hyperplasia, renal aplasia, hypoplasia or dysplasia and otosclerosis occurring in the same individual or the same family.
We have found 3 reports of fibromuscular hyperplasia (FMH) of the renal arteries with hypertension occurring in 2 siblings as well as a few instances of renal agenesis and unilateral renal aplasia occurring in the same family. In this paper we report on FMH of the renal arteries in 2 women, one giving birth to a child with renal agenesis, the other to a child with a focally dysplastic hypoplasia of the kidneys. A third family is reported, heavily loaded with hypertension and otosclerosis, in which 2 siblings with FMH and otosclerosis were found. Another 4 patients without known heredity for hypertension, but with FMH combined with renal or urinary tract anomalies, are also reported. The findings are discussed, particularly in relation to the findings in a large material of chronic non-obstructive pyelonephritis, where in those with well maintained renal function, hypertension below the age of 40 was found predominantly in females with a positive family history of hypertension and signs highly suggestive of infected hypoplasia or dysplasia of the kidney.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001157:Arterial Occlusive Diseases / Q000235:genetics*; D005260:Female; D005352:Fibromuscular Dysplasia / Q000235:genetics*; D006801:Humans; D006965:Hyperplasia; D006977:Hypertension, Renal / Q000235:genetics; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009130:Muscle, Smooth / Q000473:pathology; D010040:Otosclerosis / Q000235:genetics*; D011859:Radiography; D012077:Renal Artery / Q000000981:diagnostic imaging / Q000473:pathology