Familial nephrotic syndrome and focal segmental glomerulosclerosis.
Three of five siblings developed a steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis within a four-month period. Two of the siblings with nephrotic syndrome (Patients 1 and 2) also have sickle cell anemia; the third (Patient 3) carries the thalassemia trait. The dizygotic twin brother of Patient 2 has sickle cell anemia, but does not have the nephrotic syndrome. The nephrotic syndrome of patient 1 was resistant to corticosteroid and cyclophosphamide therapy and she developed severe renal failure 14 months after onset. The nephrotic syndrome of Patients 2 and 3 was steroid resistant but was partially responsive to cyclophosphamide therapy. They have persistent proteinuria with mild elevation of serum creatinine concentration and hypertension 5 1/2 years after diagnosis. In this family, the nephrotic syndrome appeared unrelated to the specific hemoglobinopathy, HLA type or mixed lymphocyte culture responsiveness despite the similarity of the renal disease.
D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics / Q000473:pathology; D003520:Cyclophosphamide / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology*; D008297:Male; D009404:Nephrotic Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D012598:Sclerosis; D012805:Sickle Cell Trait / Q000235:genetics / Q000473:pathology; D013789:Thalassemia / Q000235:genetics / Q000473:pathology; D014429:Twins, Dizygotic
D000305:Adrenal Cortex Hormones; D003520:Cyclophosphamide