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February 1973

Nail-Patella Syndrome: Light and Electron Microscopic Studies of the Kidney

Author Affiliations

Oklahoma City; New York

From the departments of pathology and medicine, University of Oklahoma, Oklahoma City (Drs. Morita, Laughlin, Kawano, and Kimmelstiel) and the Division of Renal Pathology, Department of Pathology, Mount Sinai School of Medicine of the City University of New York, New York (Drs. Suzuki and Churg).

Arch Intern Med. 1973;131(2):271-277. doi:10.1001/archinte.1973.00320080107015

The nail-patella syndrome is considered to be an autosomal dominant hereditary disease.1 It is manifested by a variety of bone and other abnormalities, such as absence or hypoplasia of the patellae, hemidysplasia of certain nails, particularly of the thumb, subluxation of the radial heads at the elbow joints, iliac horns, thickening of the scapulae, heterochromia iridis, etc. It is also known that proteinuria is found in about 40% of the affected patients.2,3

Although a dozen or so histopathological studies of the renal lesions are available,4-14,16 four of which include electron microscopy,11,13,14,16 the presumably characteristic features of the disease were described only once.16

We have examined with light and electron microscopy kidney biopsy specimens in two cases in a family— father and son. The father was already in uremia and the son had only asymptomatic proteinuria. The purpose of this paper is to describe the

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