Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy.

摘要: A newborn boy is presented with proteinuria, edema, aplasia of patellae, and extension defect in the elbows. Seven his relatives have, or have had, nephropathy skeletal deformities two them only deformities. Spontaneous recovery proteinuria edema occurred at 2 weeks age. The family history, clinical signs, rapid improvement patient9s condition confirmed diagnosis hereditary onycho-osteodysplasia (HOOD) neonatal nephrosis-like disease. Other causes nephrotic syndrome, such as congenital nephrosis, syphilis, renal vein thrombosis could be excluded. patient described remained symptomless, exception until age 24 months. incidence prognosis HOOD discussed on basis reported data from literature.