Internal Medicine: Open Access
Open Access

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

International Conference on Internal Medicine

October 31-November 02, 2016 San Francisco, USA

Haifa Hasan Sindi

Nutrition Maternity and Children Hospital, KSA

Posters & Accepted Abstracts: Intern Med

Abstract :

Background & Aim: 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 diarrhea. The aim of this study was to report the clinical and the laboratory characteristics of patients with CGGM from the Western Saudi Arabia. Patients & 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 Center and Maternity Children Hospital in the period between November 2001 and October 2011. Results: 24 patients with CGGM have been described. The median age at diagnosis was 4.5 months. 12 (50%) were males. 16 (66.7%) were Saudi and 8 (33.3%) were non-Saudi (5 Arabs and 3 Asians). Parents of 21 patients were consanguineous. 9 (37.5%) had affected siblings with CGGM. All presented with diarrhea 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. 5 patients reported one or more symptoms of bloating (n=3), diarrhea (n=3) and abdominal pain (n=1) during follow up. All had normal development and none had neurological complication secondary to dehydration. Conclusion: Early recognition and management of this condition are crucial to prevent consequences of dehydration and death.

Biography :

Haifa Hasan Sindi is currently working as a Consultant Pediatric and Gastroenterologist at the Nutrition Maternity and Children Hospital, Al Mosadia since 2003.

Email: haifa_hasan@hotmail.com