HEREDITARY ONYCHO-OSTEODYSPLASIA (THE NAIL-PATELLA SYNDROME) WITH NEPHROSIS-LIKE RENAL DISEASE IN A NEWBORN BOY

Abstract

A newborn boy is presented with proteinuria, edema, aplasia of patellae, and extension defect in the elbows. Seven of his relatives have, or have had, nephropathy and skeletal deformities and two of them have only skeletal deformities.

Spontaneous recovery of proteinuria and edema occurred at 2 weeks of age. The family history, clinical signs, and rapid improvement in the patient's condition confirmed the diagnosis of hereditary onycho-osteodysplasia (HOOD) with neonatal nephrosis-like disease. Other causes of the neonatal nephrotic syndrome, such as congenital nephrosis, congenital syphilis, and renal vein thrombosis could be excluded. The patient described remained symptomless, with the exception of skeletal deformities until the age of 24 months. The incidence and prognosis of nephropathy in HOOD is discussed on the basis of the reported family and data from the literature.