Renal Transplantation in a Patient With Lipoatrophic Diabetes a Case Report

SUMMARY A patient with congenital generalized lipodystrophy developed nephrotic syndrome with progressive renal glomerulosclerosis attributed to diabetic nephropathy. Renal transplantation was performed and the patient was discharged with normal renal function. Marked hyperlipidemia (17,500 mg/dl) persisted. One month later renal malfunction developed, and an open renal biopsy was performed when there was no response to antirejection therapy. Massive lipid deposition in renal tubular cells with tubular necrosis and hemorrhage was present but only minimal evidence of graft rejection. Rejection therapy was tapered and renal function stabilized. Death occurred 2 months later because of pulmonary sepsis. Patients with generalized lipodystrophy and severe hyperlipidemia may be at an unusually high risk for renal homograft destruction. Generalized lipodystrophy is a rare disorder of obscure etiology that may be congenital or acquired. The two forms are similar in that both have total absence of fat, hepatomegaly with cirrhosis, and hyperlipidemia. However, there are features that distinguish the two forms. The congenital variety, having its onset at birth (3) with equal sex distribution (1), is associated with diabetes mellitus only in the later stages of the disease. Also frequently present in the congenital variety are accelerated growth (15) and acanthosis nigricans, (12, 13). The acquired form presents later in life, has a female sex predominance, and is usually associated with diabetes mellitus from the onset (16). There is no evidence that the acquired form is inherited, whereas the congenital variety seems to be inherited as an autosomal recessive trait (11, 17). The term lipoatrophic diabetes characterizes patients that have generalized lipodystrophy associated with diabetes mellitus. The entire clinical syndrome of lipoatrophic diabetes as first described by Lawrence (6) encompasses: (1) generalized lipodystrophy (complete absence of subcutaneous, intra-abdominal, and perinephric fat); (2) hepatosplenomegaly; (3) insulin-resistant diabetes with little tendency to develop ketosis; (4) hyperlipidemia; and (5) a marked elevation of basal metabolic rate without other evidence of hyperthyroidism. Although renal involvement has been reported in patients with lipoatrophic diabetes, renal failure has not been a common occurrence. Hepatic failure secondary to cirrhosis occurs frequently and is the most common cause of death in these patients (11). Hemorrhage from esophageal varices has been a frequent complicating factor (16). We wish to report observations made of a patient with lipoatrophic diabetes and chronic renal failure. The renal failure in this patient necessitated hemodialysis and eventually cadaveric renal transplantation.