Echocardiography and pulmonary function testing in childhood onset systemic lupus erythematosus.

The aim of this paper was to investigate the frequency of echocardiography (ECHO) and pulmonary function test (PFT) abnormalities in childhood onset systemic lupus erythematosus (SLE), and to determine the relationship of these abnormalities to disease activity. The charts of 50 patients with childhood onset SLE attending a pediatric rheumatology clinic were reviewed for ECHO and PFT studies. The frequency and description of ECHO and PFT abnormalities were documented. Possible associations of PFT and ECHO abnormalities with clinical cardiopulmonary disease, radiographic findings, and measures of lupus disease activity were evaluated. Forty patients (80%) had at least one ECHO study. Twenty-seven (68%) had an abnormal initial study. Nine of 14 patients with an initial abnormal ECHO had normal findings on repeated study. Three abnormalities were considered moderately severe. Thirty-three patients (66%) had at least one PFT performed. Sixteen (48%) were abnormal initially. Four of these 'abnormal' studies were repeated and the abnormalities persisted. Nine patients (27%) were considered to have a severe abnormality. Thirty-one children (62%) had both studies performed. An initial abnormal ECHO and abnormal PFT was found in 10 (32%) of these children. No relationship between ECHO or PFT abnormality and any measure of disease activity (physician's global assessment, anti DNA, C3 or ESR) could be found. Occult cardiac and pulmonary disease as demonstrated by ECHO or PFT occurs frequently in childhood onset SLE. If we wish to understand the natural history of these abnormal heart and lung findings, it will be necessary to do serial testing with ECHO and PFTs in this population.

A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.

Fanconi-Bickel syndrome is characterized by hepato-renal glycogenosis with severe renal tubular dysfunction and rickets. It has recently been found to be associated with GLUT2 mutations in three families. In another family, low activities of liver phosphorylase kinase (Phk) have been observed, suggesting that Fanconi-Bickel syndrome might be genetically heterogeneous. We have analyzed this family for mutations in the GLUT2 gene and in the three Phk subunit genes that can cause liver glycogenosis (PHKA2, PHKB, and PHKG2). The coding sequences of all three Phk genes are normal but we have identified a homozygous missense mutation (Pro417Leu) in GLUT2. The affected proline residue is completely conserved in all mammalian glucose permease isoforms and even in bacterial sugar transporters and is believed to be critical for the passage of glucose through the permease. Seven affected individuals from different branches of the same large consanguineous sibship all are homozygous for this mutation. These findings indicate that there is no specific subtype of genetic Phk deficiency giving rise to hepato-renal glycogenosis. Rather, they provide further evidence that Fanconi-Bickel syndrome is caused by GLUT2 mutations. The low Phk activity is probably a secondary phenomenon that contributes to the deposition of glycogen in response to the intracellular glucose retention caused by GLUT2 deficiency.

Primary hyperoxaluria type 1: An underestimated cause of nephrocalcinosis and chronic renal failure in Saudi Arabian children.

BACKGROUND: Primary hyperoxaluria type I (PHI) is a rare metabolic disease caused by deficiency or abnormalities of the peroxisomal enzyme alanine-glyoxylate aminotransferase. In the majority of patients, the clinical expression of PHI is characterized by recurrent calcium oxalate urolithiasis, nephrocalcinosis and renal failure. PATIENTS AND METHODS: Sixteen children aged 5 months to 14 years were diagnosed as PHI over a 10-year period ending in June 1997. The diagnosis was established by quantitative urinary oxalate excretion, or by a high urine oxalate/creatinine ratio on spot urines. RESULTS: The majority of patients had nephrolithiasis (13/16) and/or nephrocalcinosis (12/16). Four patients already had advanced chronic renal failure at the time of diagnosis. Altogether, PHI accounted for 20% of nephrocalcinosis and 6% of end-stage renal disease. Two patients had a complete response to pyridoxine therapy, while four patients had a partial response. Eight patients underwent organ transplantation, three underwent kidney transplantation, three received combined liver/kidney transplantation for end-stage renal disease, and two received isolated preemptive liver transplantation. CONCLUSION: Combined organ transplantation provided the best long-term results.

Management of hyperlipidemia in children with refractory nephrotic syndrome: the effect of statin therapy.

The efficacy and safety of hydroxymethylglutaric coenzyme A reductase inhibitor (statins) in the treatment of hyperlipidemia were evaluated in 12 infants and children with steroid-resistant nephrotic syndrome followed prospectively for 1 to 5 years. All patients experienced a hypolipidemic response with a marked reduction in their total cholesterol (40%), low-density lipoprotein cholesterol (44%), and triglyceride levels (33%), but no appreciable change in high-density lipoprotein cholesterol. Statin therapy was well tolerated without clinical or laboratory adverse effects. In spite of a significant hypolipidemic response to statin therapy there were no changes observed in the degree of proteinuria, hypoalbuminemia, or in the rate of progression to chronic renal failure. Long-term controlled studies with statin therapy are needed to further document or negate their renoprotective role in refractory nephrotic syndrome.

Congenital chloride diarrhea: A single center experience with ten patients.

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder characterized by life-long watery diarrhea with a high fecal chloride concentration. We report the clinical and laboratory data in 20 Saudi infants with CCD admitted to our center between January 1986 and December 1991. In addition to diarrhea, there was a history of maternal polyhydramnios, low birth weights, abdominal distention and failure to thrive. The mean serum and stool chloride concentrations were 71 and 146 mmol/L respectively. Diagnosis was frequently delayed in spite of the early symptoms and the unique association of diarrhea with hypochloremic alkalosis. Treatment with NaCl and KCI solutions in amounts titrated to correct their electrolyte depletion and metabolic alkalosis resulted in marked clinical improvement and growth catch-up. Congenital chloride diarrhea should be suspected in patients with watery stools starting in teh neonatal period or early infancy. The diagnosis is confirmed by the presence of a high fecal chloride concentration and the concomitant hypochloremic alkalosis.

Diarrhoea in the under-fives in a Saudi semiurban community.

A cross-sectional study of diarrhoea in the under-fives was carried out in a semiurban community in the Eastern Province of Saudi Arabia. The aim was to estimate the point and period prevalence and to examine some factors possibly related to the prevalence of diarrhoea. The point and period prevalence of diarrhoea were found to be 5.4% and 12.5% respectively. The presence of diarrhoea was significantly associated with age of child and the type of feeding in children below one year. Factors such as parental age and education and the number of children under five in the household were also found to be significantly associated with diarrhoea. For prevention of diarrhoea the authors recommend the establishment of 'under-fives' clinics and health education programmes to educate mothers on diarrhoea.