Congenital glucose-galactose malabsorption: a descriptive study of clinical characteristics and outcome from Western Saudi Arabia.

BACKGROUND AND STUDY AIMS: Congenital glucose galactose malabsorption (CGGM) is a rare autosomal recessive disorder caused by a defect in the sodium-coupled transport of glucose and galactose across the intestinal brush border presenting with neonatal diarrhoea. The aim of this study was to report the clinical and laboratory characteristics of patients with CGGM from the Western Saudi Arabia. PATIENTS AND METHODS: This is a retrospective review of CGGM patients in three major hospitals in the city of Jeddah, Saudi Arabia, namely King Abdulaziz University Hospital, King Faisal Specialist Hospital and Research Centre, and Maternity Children Hospital in the period between November 2001 and October 2011. RESULTS: Twenty-four patients with CGGM have been described. The median age at diagnosis was 4.5 months. Twelve (50%) were males. Sixteen (66.7%) were Saudi and 8 (33.3%) were non Saudi (5 Arabs and 3 Asians). Parents of 21 patients were consanguineous. Nine (37.5%) had affected siblings with CGGM. All presented with diarrhoea resulted in dehydration. Hypernatremia was seen in 7 (29.2%) patients, renal tubular acidosis in 4 patients. Renal stones and nephrocalcinosis were detected in 3 (12.5%) patients at 8 months, 12 months and 7 years, respectively. The median follow up was 41.6 months. All but three demonstrated normal weight gain. Five patients reported one or more symptoms of bloating (n=3), diarrhoea (n=3) and abdominal pain (n=1) during follow up. All had normal development and none had neurological complications secondary to dehydration. CONCLUSION: Early recognition and management of this condition are crucial to prevent consequences of dehydration and death.

Entecavir treatment of children 2-16 years of age with chronic hepatitis B infection.

BACKGROUND AND STUDY AIMS: Childhood acquired chronic hepatitis B is associated with a significant lifetime risk of developing cirrhosis or hepatocellular carcinoma. Our objective in this study was to report retrospectively the response to treatment with Entecavir in 8 children with chronic hepatitis B followed at the King Abdulaziz University Hospital, Jeddah, Saudi Arabia. PATIENTS AND METHODS: This study is an observational hospital based chart review of children and adolescents with chronic hepatitis B treated with entecavir at the King Abdulaziz University Hospital, Jeddah, Saudi Arabia in the period between June 2007 and July 2011. RESULTS: Half of the studied group was males, and the median age at the time of treatment was 4.8 years (range, 2.6-15). All subjects displayed infection with HBV genotype D and all were HBeAg positive. Half of the patients had been previously treated with lamivudine, while the remaining half was treatment naïve patients. The mean ALT±SD was 84.9±34.7IU/L (range, 46-133) and the mean HBV DNA was 5.01×10(8)±5.7×10(8) IU/mL (range, 5.5×10(7)-1.3×10(9)). Patients were treated with a daily oral dose of 0.5mg entecavir, and the mean duration of treatment was 23.8±11.9 months, (range 14.9-44.7 months). HBV DNA suppression of more than 2 log(10) was achieved in all patients. HBV DNA was undetected in 37.5%, with ALT normalization in 87.5% and lastly HBeAg seroconversion and loss occurred in 37.5%. No adverse side effects were observed during the treatment with entecavir. CONCLUSION: We conclude from this limited data that 37.5% of children treated with entecavir achieved HBeAg loss and seroconversion with no side effects observed during treatment period, however long term safety and efficacy in children should be demonstrated through a multicenter study, enrolling large number of patients.