A man with proteinuria, familial history of kidney disease, painful extremities and cutaneous lesions

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Abstract
A 43-year-old man was referred because of mild proteinuria. Proteinuria was first discovered by systematic urine examination at 17 years of age. During childhood and until age 35, the patient experienced recurrent excruciating pain episodes involving the four extremities, especially after exposure to heat or exercise. His two brothers had the same painful episodes, glomerular proteinuria, and reached end-stage renal disease at 34 and 35 years of age. Both subsequently received a kidney transplant but died of infectious and surgical complications at age 45 and 37 respectively. Their mother, aged 70, suffered intermittent proteinuria without renal failure. Pedigree is shown Figure 1.

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