Polymorphism of the ACE gene in Henoch-Schönlein purpura nephritis.

Individuals with IgA nephropathy (IgAN) who are homozygous for the deletion (D) polymorphism of the gene for angiotensin converting enzyme (ACE) are reported to be at increased risk of progressive renal damage. Since IgAN and Henoch-Schönlein purpura with associated nephritis (HSPN) share a common aetiology, we have investigated this influence in 31 children with HSPN. The distribution of genotypes was as follows: II: 4, ID: 17 and DD: 10 patients. Median length of follow-up was 4.5 years (range 0.5-15.75 years). Severe onset with nephrotic oedema and crescent formation on renal biopsy was seen in 10 of 17 patients with ID genotype and 5 of 10 patients with DD genotype. In the ID group, 2 patients have undergone renal transplantation and 4 have persistent proteinuria 4, 7, 9 and 10 years after presentation. One patient in the DD group has been transplanted and 1 patient has proteinuria and a reduced glomerular filtration rate 5 years after initial presentation. All other patients have either made a complete recovery or have microscopic haematuria alone. These results do not support an association between disease severity and DD genotype in children with HSPN; however larger studies are required to confirm this.

The role of early renal biopsy in cyclosporin induced thrombotic microangiopathy.

Thrombotic microangiopathy is an uncommon complication of cyclosporin immunosuppression following renal transplantation. We present a 15-year-old girl who developed clinical features of acute rejection, but in whom an early biopsy revealed thrombotic microangiopathy, allowing a change to FK506 immunosuppression resulting in excellent graft recovery.

Clinical relevance and implications of antenatal hydronephrosis.

Detailed antenatal sonography was performed on 18766 pregnant women between 1990 and 1994. Antenatal hydronephrosis, defined as an antero-posterior diameter of the renal pelvis (APPD) greater than 5 mm, was detected in 100 cases (0.59%). Sixty four infants had postnatal hydronephrosis at one and/or six weeks after delivery; 21 of these had urological anomalies. Twelve infants had vesico-ureteric reflux. In all refluxing units the APPD of the renal pelvis was less than 10 mm. Three patients had obstruction at the pelviureteric junction (PUJ); all required surgery. Vesico-ureteric reflux is emerging as the most common urological finding in infants with antenatal hydronephrosis and is likely to be missed if kidneys with APPD of less than 10 mm are not further investigated. In contrast, pelvi-ureteric junction obstruction may be overdiagnosed, based only on drainage patterns of dynamic renogram studies.

Reversible renal failure in renal transplant patients receiving oral acyclovir prophylaxis.

Two children who developed acute renal failure in the immediate post-renal transplantation period are presented. Each was immunosuppressed with cyclosporin and was also receiving oral acyclovir for prophylaxis against cytomegalovirus infection. Renal biopsy findings suggested drug toxicity. Discontinuation of acyclovir coincided with reversal of renal impairment. As cyclosporin levels were at the lower end of the therapeutic range, we believe acyclovir to be the likely causative agent.

Haemolytic uraemic syndrome and the Thomsen Friedenreich antigen.

In three children with haemolytic uraemic syndrome (HUS), evidence of red cell polyagglutinability due to Thomsen Friedenreich antigen (T-antigen) exposure was demonstrated. This was suspected after difficulties in ABO typing and was confirmed using specific antisera. Further supportive evidence included elevation of plasma sialic acid, alteration in red cell surface charge and evidence of T-antigen exposure in the renal biopsy specimen of one patient. Although involvement of this antigen in the pathogenesis of HUS has been associated with a high mortality, all three children have made a complete recovery. With early recognition and subsequent avoidance of plasma products, prognosis of this condition may be improved.

Somatomedin C deficiency in Asian sisters.

Two sisters of Asian origin showed typical clinical and biochemical features of primary somatomedin C (SM-C) deficiency (Laron dwarfism). Abnormalities of SM-C binding proteins were observed, one sister lacking the high molecular weight (150 Kd) protein.

Neurologic-developmental sequelae of chronic renal failure in infancy.

Twelve children who have had chronic renal failure since infancy and underwent early dialysis (mean age 18 months) and early transplantation (mean age 28 months) were studied. Although head circumference in all was within the normal range at birth, by 1 year it was greater than 2 SD below the mean in nine, including six in whom it was greater than 3 SD below the mean. Developmentally, eight children were functioning in the subnormal range; four of these were moderately and one severely mentally retarded. It was not possible to determine whether the unfavorable neurologic-developmental outcome was the result of the toxic effects of uremia, malnutrition, or the associated psychosocial and experiential deprivation related to chronic, severe illness. Even minor insults at this vulnerable stage of brain development may produce permanent damage, and institution of therapy as early as possible may be crucial in obtaining a more favorable outcome.

Complications of diazoxide in the treatment of nesidioblastosis.

Two children with hypoglycaemia secondary to hyperinsulinaemia were treated with diazoxide. They suffered serious side effects of cardiac failure and truncal ataxia.

Subcutaneous emphysema: a new form of self abuse.

Subcutaneous emphysema is usually the result of trauma or surgery. We report an unusual case of a disturbed adolescent who presented with cervicofacial emphysema as a result of self abuse.