Distal Renal Tubular Acidosis with Hereditary Spherocytosis.

Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with coexistence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.

Revised Guidelines on Management of Antenatal Hydronephrosis.

Widespread antenatal screening has resulted in increased detection of anomalies of the kidneys and urinary tract. The present guidelines update the recommendations published in 2000. Antenatal hydronephrosis (ANH) is transient and resolves by the third trimester in almost one-half cases. The presence of oligohydramnios and additional renal or extrarenal anomalies suggests significant pathology. All patients with ANH should undergo postnatal ultrasonography; the intensity of subsequent evaluation depends on anteroposterior diameter (APD) of the renal pelvis and/or Society for Fetal Urology (SFU) grading. Patients with postnatal APD exceeding 10 mm and/or SFU grade 3-4 should be screened for upper or lower urinary tract obstruction and vesicoureteric reflux. Infants with vesicoureteric reflux should receive antibiotic prophylaxis through the first year of life, and their parents counseled regarding the risk of urinary tract infections. The management of patients with pelviureteric junction or vesicoureteric junction obstruction depends on clinical features and results of sequential ultrasonography and radionuclide renography. Surgery is considered in patients with increasing renal pelvic APD and/or an obstructed renogram with differential renal function <35-40% or its subsequent decline. Further studies are necessary to clarify the role of prenatal intervention, frequency of follow up investigations and indications for surgery in these patients.

Spinal tuberculosis in an infant associated with maternal urinary tuberculosis.

Summary: A ten-month-old infant who presented with regression of milestones and seizures was noted to have a gibbus deformity in the upper thoracic region. She was diagnosed to have spine and central nervous system tuberculosis by culture of pus from the paravertebral abcess which showed a growth of Mycobacterium tuberculosis. The mother, who had been having recurrent episodes of Urinary tract infection, was diagnosed to have Urinary TB proven by culture. Spinal tuberculosis, though rare, can be encountered in infancy and should be kept in mind while treating infants presenting with related symptoms.

Clinical features and outcome of systemic lupus erythematosus.

We report the clinical profile, treatment and outcome of systemic lupus erythematosus in 70 patients between the age of 4-15 years. Fever (94.2%), arthritis (65.7%) and malar rash (57.1%) were the chief extra-renal manifestations. The ESR was raised in 98.5% patients, anemia was seen in 60% and direct Coombs test was positive in 58.3%. Antinuclear antibody was positive in all; anti-double stranded DNA antibody and low C3 levels were seen in 77.1% and 80%, respectively. Renal involvement was noted in 77.1% and included proteinuria (53%), hematuria (42.8%), hypertension (18.5%) and elevated serum creatinine (8.6%). Renal histology showed class I nephritis in 3.7%, class II in 44.4%, class III in 4.3%, class IV in 44.4% and class V in 1.8%. On follow up 18.8 months later, 70% patients were in remission, 7.5% had active disease and 7.5% died. The characteristics of childhood lupus erytematosus were similar to those previously reported. The outcome was favorable in most cases.

Kenny-Caffey syndrome.

Kenny-Caffey syndrome is a rare hereditary skeletal syndrome characterized by dysmorphic features, severe growth retardation, classical radiological changes and hypocalcemia with hypoparathyroidism at an early age. We report an 8-month-old girl child with Kenny-Caffey syndrome who had most of the features of the syndrome. Any child with hypocalcemia who has typical facial features should raise a suspicion of this syndrome.

Clinical profile and outcome of acute renal failure in South Indian children.

This was a retrospective study to assess the clinical profile of children admitted with acute renal failure and to identify factors associated with poor outcome. Fifty-four children (age one month to 12 years) with acute renal failure were studied. Males outnumbered females (38/54; 70%). The leading precipitating causes for renal failure were acute gastro-enteritis (85%), underlying renal pathology (43%), proven sepsis (22%) and suspected sepsis (22%). The main presenting complaints were diarrhoea (86%),oliguria (72%), rapid respiration (37%), oedema (37%), vomiting (19%) and seizures (13%). All patients underwent standard investigations and treatment. Forty-eight per cent of patients required peritoneal dialysis and 15% required ventilation.The overall mortality was 52%. Underlying renal pathology and sepsis both contributed to the high morbidity and mortality. Mortality due to sepsis was 83%; it was 65% in dialysed patients and 100% in those requiring ventilatory support. Biochemical profile of the above patients showed that hyperkalaemia was significantly associated with high mortality (83%) as against 75% in those with hypokalaemia and 33% with normal levels (p<0.001). Patients with hyponatraemia and hypernatraemia similarly had an adverse outcome. Acidosis, seen in 20 patients, had a mortality of 45%. The outcome was poorer in those with high creatinine levels (63%).

Pneumococcal subdural empyema in young infants.

We report three young infants including a neonate with fulminant pneumococcal subdural effusion.