Akshay Kapoor

Hepatitis B in children—current status

Chronic hepatitis B infection remains a significant global health problem. Acquisition during infancy or childhood causes many of the chronic infections that are responsible for the morbidity associated with this disease. Some children with chronic hepatitis B are candidates for treatment based on the viral load and presence of transaminitis. Three medications are currently licensed for use in children, and it is anticipated that others will be available in the next several years. This article reviews the current knowledge regarding the natural history and treatment of chronic hepatitis B in children.

A single base-pair deletion in the WFS1 gene causes Wolfram syndrome

Abstract Wolfram syndrome is a progressive neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). The majority of cases are caused by mutations in the WFS1 gene. WFS1 is located at 4p16.1 and encodes wolframin, a transmembrane endoplasmic reticulum (ER) protein involved in the negative regulation of ER stress signalling. To date, over 120 WFS1 mutations have been described. In this study, we report a consanguineous family with three siblings affected by Wolfram syndrome. A homozygous single base pair deletion (c.877delC, L293fsX303) was found in the WFS1 gene in all three affected siblings.

Homozygous familial hypercholesterolaemia in two boys aged 5 and 10 years.

Familial hypercholesterolaemia (FH) is an autosomal dominant lipid disorder. Homozygous FH (HFH), though rare, presents in early childhood. Two different presentations of HFH are reported. The first child presented at 5 years of age with xanthomas on the knees, elbows and buttocks and failure to thrive since the second year of life. He was found to be hypertensive with moderate aortic regurgitation. He is now stable on statins and antihypertensives. The second child presented at 10 years of age with multiple xanthomas and severe aortic stenosis. He died of refractory cardiac failure despite emergency aortic balloon valvoplasty due to diffuse coronary artery disease. Strong clinical suspicion can aid early diagnosis and delay cardiovascular complications.

Expanding indications for pediatric liver transplantation

The successful development of pediatric liver transplantation (LT) over the past four decades has dramatically changed the prognosis for children dying of acute and end-stage liver failure. Over the past two decades survival post transplantation has improved because of better preoperative management, optimal nutritional support, innovative surgical techniques, and improvements in immunosuppressive medications. The ensuing improvement in survival rate has extended the range of indications for LT in children to include transplantation for metabolic liver disease and unresectable hepatic tumors.