ABSTRACT
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.
Subject(s)
Kidney Glomerulus/pathology , Nephrotic Syndrome/genetics , Adolescent , Adrenal Cortex Hormones/therapeutic use , Adult , Anemia, Sickle Cell/genetics , Anemia, Sickle Cell/pathology , Cyclophosphamide/therapeutic use , Female , Humans , Male , Nephrotic Syndrome/drug therapy , Nephrotic Syndrome/pathology , Pregnancy , Sclerosis , Sickle Cell Trait/genetics , Sickle Cell Trait/pathology , Thalassemia/genetics , Thalassemia/pathology , Twins, DizygoticABSTRACT
The diagnostic accuracy of nephrosonography is compared with conventional radiologic techniques and surgical findings in 13 infants aged 1 day to 14 months, who were in renal failure or had abdominal masses. Ten of the 13 infants presented with marked renal failure and in half of them neither kidneys nor collecting systems were visualized on the first intravenous pyelogram. Normal renal architecture was demonstrated by nephrosonography in three, hypoplastic kidneys in three, hydronephrosis in three, and a combination of hydronephrosis and contralateral multicystic kidney in one. In the three infants without renal failure, only one kidney was demonstrated by IVP; The cystic contralateral kidney in each of them was demonstrated by nephrosonography. In all cases the diagnosis was confirmed by conventional radiologic techniques when renal function had improved or by surgical exploration. This technique appears to be a useful adjunct to conventional radiography in the differential diagnosis of the infant with abnormalities of the urinary tract. Nephrosonography is of especial value when a kidney is not visualized by IVP, and it may appropriately aid in therapeutic decisions regarding the use of invasive procedures in small critically ill infants.