Congenital hypoaldosteronism.

Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

Gastrointestinal bleeding in a toddler secondary to chronic renal failure and hyper-gastrinemia.

A 3-year-old girl with H. pylori negative duodenal ulcer with hypergastrinemia secondary to chronic renal failure presenting with upper gastrointestinal bleed as the cardinal manifestation is unusual in toddlers and the case is presented for its rarity.

Glomerulocystic disease.

We report a 9 month old girl with renal failure. The kidneys were of normal size with increased echogenecity. Kidney biopsy showed features suggestive of glomerulocystic disease. The patient is on conservative management.

Subcutaneous fat necrosis with hypercalcemia.

Subcutaneous fat necrosis of the newborn (SCFN) is an uncommon condition and may be complicated by hypercalcemia. A 28-day-old neonate, presenting with SCFN, hypercalcemia and nephrocalcinosis was managed with intravenous saline followed by furosemide, oral prednisolone, potassium citrate and etidronate.

Hypereosinophilic syndrome.

Hypereosinophilic syndrome is a leukoproliferative disease characterised by sustained overproduction of eosinophils. The three diagnostic criteria for this disorder are (1) Eosinophilia of greater than 1500 cells/ml, persisting for longer than 6 months, (2) lack of another diagnosis to explain the eosinophilia and (3) signs and symptoms of organ involvement. We report a 15-year-old boy who was diagnosed as Hypereosinophilic syndrome based on these criteria.

Steroid resistant nephrotic syndrome is sustained remission attainable.

A prospective study was undertaken to find out the benefit of immunosuppressive therapy(IV methyl prednisolone followed by oral prednisolone therapy for one year along with six doses of pulse monthly IV cyclophosphamide) in children with steroid resistant nephrotic syndrome. Thirty-four children with steroid resistant nephrotic syndrome were treated with above regime. The remission of the disease was determined at the end of first, second and third year. The above protocol could induce and maintain remission in 81.8% of children with minimal change nephrotic syndrome, 66.7% of children with diffuse mesangial proliferation and in only 16.7% of children with focal segmental glomerulosclerosis at the end of three years of the study. The therapy of IV methyl prednisolone followed by oral prednisolone for one year with 6 monthly pulse IV cyclophosphamide, is beneficial in children with steroid resistant minimal change disease and diffuse mesangial proliferative glomerulonephritis. The therapy is not effective in focal segmental glomerulosclerosis.

Evaluation of the use of DMSA in culture positive UTI and culture negative acute pyelonephritis.

This prospective study was done to assess the frequency of acute pyelonephritis (APN) in febrile children with positive urine culture as documented by Tc99m DMSA scintigraphy (DMSA) and the frequency of vesicoureteric reflux (VUR) in these children. Secondly, to determine the frequency of APN, in febrile children with supportive evidence for UTI but with negative urine culture, as documented by DMSA and frequency of VUR in them. Thirdly to stress the utility of DMSA to diagnose APN in urine culture negative febrile children and to suggest DMSA as a clinical tool in evaluation of fever of unknown origin (FUO). This study included 42 children with positive urine culture and 26 children with negative urine culture who had supportive evidence of UTI as determined by the predetermined criteria and diagnosed to have APN by DMSA. All of them had ultrasonogram (USG), DMSA and voiding cystourethrogram (VCU). They were followed up for a minimum period of 6 months. Out of the 42 children with positive urine culture 92.9% had features of APN in the DMSA of whom 82.1% had vesicoureteric relux (VUR). The DMSA was abnormal in 26 children with negative urine culture, of whom 65.4% had VUR. Ultrasound suggestive of parenchymal change was observed in 47.6% in the culture positive group and 65.4% in the culture negative group. In conclusion, it is suggested, that DMSA is a useful investigation for the diagnosis of APN in febrile UTI. DMSA is indicated in febrile children with negative urine culture but with supportive evidence of UTI and in FUO. An abnormal DMSA is a strong indication for work up for VUR.

Pseudo-hypo aldosteronism Type II.

A 50-day-old infant diagnosed as meningitis had persistently elevated serum potassium, low serum bicarbonate and normal serum sodium. She had metabolic acidosis with low TTKG, low serum renin and low normal serum aldosterone with no renal failure or extra renal causes of hyperkalemia. Hence a diagnosis of Type II pseudo-hypoaldosteronism was made. She was started on oral thiazide following which her serum electrolytes normalized.

Non-organ specific & organ-specific auto-antibodies in hepatitis-B virus associated glomerulonephropathies.

Eighty eight patients of glomerulonephropathies (HBsAg positive 67; HBsAg negative 21) and 88 matched and healthy controls were screened for non-organ specific autoantibodies-ANA, AMA, ASMA and APCA by indirect immunofluorescent technique. The 2.3 per cent positivity in the test group and the 8 per cent positivity in the control group did not suggest the involvement of hepatitis-B virus (HBV), as an influencing or associated agent. When 48 patients with glomerulonephropathies and 23 controls were screened for liver cell membrane (LMA) and renal cell membrane antibodies (RMA) by indirect immunofluorescent technique using isolated rat hepatocytes and renal cells, 79.2 per cent LMA positivity was seen in the HBsAg positive group and 41.7 per cent in the negative group and RMA positivity was 58 per cent in the positive group and 25 per cent in the negative group. Simultaneous positivity for both LMA and RMA was recorded in 50 per cent of the HBsAg positive patients and 15.7 per cent of the negative ones. The results suggest the possibility of an organ specific autoimmune trigger more frequently in HBV associated glomerulonephropathy.