new case of Chanarin-Dorfman syndrome with a novel deletion in ABHD5 gene

Chanarin-Dorfman syndrome [CDS] is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of alpha/beta-hydrolase enzyme [ABHD5]. It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as new cases of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5. According to the American College of Medical Genetics and Genomics, this variant is categorized as a pathogenic variant

Biochemical risk factors for stone formation in healthy school children

Prevalence of urolithiasis in childhood is increasing. The wide geographic variation in the incidence of lithiasis in childhood is related to climatic, dietary, and socioeconomic factors. Many children with stone disease have a metabolic abnormality. In Southeast Asia, urinary calculi are endemic and are related to dietary factors. The main aim of this study was to determine the prevalence of renal stone, urine metabolic abnormality, control of blood pressure and demographic character in elementary school children of Qom. A cross sectional study was performed on 110 primary school children [56 girls and 54 boys] aged 7 to 11 years old. Demographic data such as age, height, weight were gathered, and systolic and diastolic blood pressure, Urine analysis and culture, urinary levels of calcium, creatinine, phosphorus, magnesium, sodium, potassium, uric acid, cystine, citrate, oxalate, protein and sonographic findings were evaluated. The mean [ +/- SD] of age was 8.85 +/- 1.51 years. Only one child had renal stone [1%], but the prevalence of abnormal renal sonography was 7%. The most prevalent urine metabolic abnormalities were hypercalciuria [23%] and hypocitraturia [100%]. 11.2% of children had positive urine culture that all were female. The prevalence of high blood pressure was 7.1% for girls and 11.1% for boys. The prevalence of renal stone in children in this study was 1%, which means the accurate judgment about the prevalence of renal stone in Qom city needs more comprehensive studies. Similar to other studies in Iran this study shows that the prevalence of hypercalciuria is significantly higher comparing to other countries, it may be associated with excessive intake of sodium