hrp0095p1-433 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Challenges in the management of infantile hypophosphatasia: revisiting the importance of supportive therapy in limited-resource settings

Fadiana Ghaisani , Tridjaja Bambang , B Pulungan Aman , RL Batubara Jose , Soesanti Frida

Background: Infantile hypophosphatasia (HPP) is an ultra-rare condition that may lead to debilitating morbidity and mortality. The prevalence of HPP in Indonesia is unknown. Enzyme replacement therapy or asfotase alfa, a bone-targeted recombinant alkaline phosphatase, can improve clinical outcome and prognosis of the patients, particularly those with severe type of HPP. The complications of HPP may be life-threatening and contribute to higher mortality in youn...

hrp0095p1-292 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Management and outcomes of congenital hyperinsulinism in infants and young children: a 5-year-experience from the tertiary referral hospital in Indonesia

Fadiana Ghaisani , Soesanti Frida , B Pulungan Aman , Tridjaja Bambang , RL Batubara Jose

Background: Congenital hyperinsulinism (CHI) is a rare condition that becomes the most frequent cause of severe and persistent hypoglycemia in infants and young children. It may lead to debilitating morbidity and mortality if being diagnosed lately. Congenital hyperinsulinism can be caused by monogenic or syndromic disorders. The prevalence of CHI in Indonesia is still unknown. However, the increasing number of cases referred to the tertiary hospital recently ...