A novel mutation in the complement regulator clusterin in recurrent hemolytic uremic syndrome.

A novel heterozygous mutation in the clusterin gene, nucleotide position A1298C (glutamine>proline Q433P), was detected in exon 7 of a child with recurrent hemolytic uremic syndrome (HUS). The same mutation was found in the child's two siblings and mother but not in 120 controls. In addition, a previously described heterozygous mutation was detected in the gene encoding membrane cofactor protein (MCP) causing a 6 base-pair deletion 811-816delGACAGT in exon 6.

Protein intake can not be estimated from urinary urea excretion.

We assessed the relationship between protein intake (calculated from a 3-day prospective dietary diary) and 24-h urinary urea excretion in 37 children with chronic renal failure. Protein intake was not restricted during the investigation period. The 24-h urinary urea excretion correlated poorly with the protein intake estimated from the dietary diary (r = 0.

Idiopathic arterial calcification of infancy.

We describe two twin sisters in whom calcification of different arteries was detected in the first weeks of life. Transient renal insufficiency, arterial hypertension, and skeletal abnormalities were also observed. One child had anasarca and heart decompensation at birth.

Recurrent haemolytic uraemic syndrome and acquired hypomorphic variant of the third component of complement.

In a girl with recurrent haemolytic uraemic syndrome (HUS), persistently low serum levels of C3 were found. Analysis of complement phenotype revealed a hypomorphic variant of C3 Fast in the patient (C3fS) and a normal heterozygous pattern in both parents and the brother (C3FS). Other complement aberrations in the patient were: the presence of a null gene for C4A and C4B and low serum levels of factor H.

Hypophosphatemia in infants on continuous ambulatory peritoneal dialysis.

Three infants with irreversible renal failure and treated with continuous ambulatory peritoneal dialysis (CAPD) developed hypophosphatemia. In one of them rachitic lesions were observed on X-ray and bone biopsy showed osteomalacic osteodystrophy. Different mechanisms may have been at the origin of the hypophosphatemia: high doses of phosphate binders, low phosphorus intake, phosphate loss with the dialysate and possibly nutritional repletion.