Indian Pediatrics 2001; 38: 663-664
Diffuse Mesangial Sclerosis Presenting as Infantile Nephrotic Syndrome
From the Indira Gandhi Institute of Child Health,
Bangalore, Karnataka, India.
Manuscript received: July 3, 2000; Initial review completed: July 18, 2000; Revision accepted: December 21, 2000.
Nephrotic syndrome may rarely occur in the first year of life. Hereditary causes of nephrotic syndrome during infancy include congenital nephrotic syndrome of Finnish type and diffuse mesangial sclerosis. Both are inherited in autosomal recessive manner(1). Acquired nephrotic syndrome in the first year of life may be due to intrauterine infections, or associated with nail patella syndrome, pseudohermaphroditism, XY gonadal dys-genesis, Wilms tumor, mercury intoxication, hemolytic uremic syndrome, and primary glomerulopathies(1). The Finnish type of congenital nephrotic syndrome is uncommon with an incidence of 1.2 per 10,000 live births(2). Diffuse mesangial sclerosis is a rare condition with onset of proteinuria and progressive renal insufficiency at any time in the first year of life(1,2). We report a case of infantile nephrotic syndrome with diffuse mesangial sclerosis.
A 9-month-old boy born to non-consanguineous parents presented with generalized edema, oliguria and hypertension of one week duration. External genitalia were normal. After clinical evaluation a diagnosis of non-minimal change nephrotic syndrome was considered. Investigations revealed hemoglobin level of 9 g/dl, normal total and differential white cell count and ESR of 40 mm at one hour. The protein was 4.4 g/dl, albumin 2.0 g/dl, cholesterol 271 mg/dl, urea 23 mg/dl and creatinine 0.8 mg/dl. The 24 hr urinary protein excretion was 2.5 g. Urine microscopy showed 10-15 red cells per high power field.
Serology for syphilis, toxoplasma, cyto-megalovirus, rubella and HIV were negative. Karyotype was normal. Ultrasound abdomen showed enlarged kidneys with increased echogenicity of parenchyma and exaggerated corticomedullary differentiation.
Renal biopsy was done with a Trucut needle under ultrasound guidance. Renal biopsy revealed 44 glomeruli, most showing varying degree of mesangial sclerosis, increased mesangial matrix and widened Bowmanís space. The tubules were markedly dilated and showed extensive hyaline casts and interstitium was edematous. These findings were suggestive of diffuse mesangial sclerosis.
Infantile nephrotic syndrome with diffuse mesangial sclerosis is characterized by onset of proteinuria during infancy and poor prognosis with early onset of uremia and most children dying due to sepsis(3). Aggressive medical management including nutritional supplementation with high calories, high protein and low sodium formula can be given. Daily infusions of albumin, diuretics, immunoglobulin, and antibiotic prophylaxis are useful. In children with clinical manifesta-tion of thrombosis low dose aspirin or dipyridamole has been used(4). Loss of thyroid binding globulin in the urine may result in neonatal hypothyroidism requiring thyroxine replacement(2).
Despite these conservative measures, most children fail to thrive and few survive to the age of 4 years. Lack of growth, persistent severe proteinuria and nephrotic state inspite of aggressive medical management constitute indications for unilateral or bilateral nephrectomy and maintenance dialysis until the child undergoes renal transplant(4). Based on the antiproteinuric action of ACE inhibitors and NSAIDS in nephrotic syndrome, these drugs can be considered before unilateral or bilateral nephrectomy is performed(3,4).
This infant presented with nephrotic syndrome at 9 months of age, which is a late onset. After starting treatment with captopril and indomethacin, proteinuria and edema decreased considerably and blood pressure normalized.
At present the infant is asymptomatic with marked reduction in proteinuria (24 hr urinarty protein excretion 550 mg), with increased blood levels of protein (5.5 g/dl), albumin (2.5 g/dl) and creatinine (0.9 mg/dl). Body weight and height are maintained at the 10th percentile.
Contributors: UL co-ordinated diagnosis and management of case. AP co-ordinated the investi-gations, management and also prepared the manu-script; she will act as guarantor for the paper. DGB and MG provided supervision and helped in drafting the paper. NB helped in preparation of manuscript.