ESPE Abstracts (2014) 82 P-D-3-1-877

Congenital Hyperinsulinism: Clinical and Molecular Characteristics of Brazilian Patients

Raphael Liberatorea, Carlos Martinellia, Gil Guerrab, Thais Della Mannac & Ivani Silvad

aFMRP-USP, Ribeirao Preto, Brazil; bUNICAMP, Campinas, Brazil; cICr-HC-FMUSP, Sao Paulo, Brazil; dUFMG, Belo Horizonte, Brazil

Background: Congenital hyperinsulinism (CH) is the most common cause of persistent hypoglycemia in neonatal period. The inadequate secretion of insulin leads to high morbidity and mortality in those newborns. Despite the recent progress in the diagnosis and management of CH, until recently, the situation in Brazil has been that of early 1990’s. The epidemiology is unknown and state-of-the art management has not been available.

Objective and hypotheses: We proposed to review clinical and molecular data from the cases of Brazilian patients with CH.

Method: All centers of pediatric endocrinology were invited to participate, and except the north region of the country, all center sent clinical data and blood species.

Results: 61 cases of CH were reviewed, 36 (59%) male, gestational age ranged between 32 and 41 weeks (M: 37,6). Macrossomia occurred in 14 cases (28%) and the age at the diagnosis ranged from 1 to 1080 days (M: 75.13) and more than 90 days in 28% of the cases. Glucose level at diagnosis range from 5 to 77 mg/dl (28.5) and insulin level 2.5 to 147 mU/ml. Cetone, ammonia and free fat acid levels were achieved in only 14% of the cases. Most part of the cases used prednisone as the first treatment although 40 cases used diazoxide. In 40% of the cases medical treatment was not effective and surgery was necessary. All histological forms were diffuse. Molecular analysis were made in 53/61 cases. ABCC8 mutations were found in 15/53 cases and KCNJ11 mutations in 6/53. Together, ABCC8 and KCNJ11 mutations occurred in 40% of the cases. Clinical and molecular correlations were impossible as 68% of the cases that used diazoxide the dosage were too small to check clinical response. Also all surgery cases were diffuse. GLUD1 mutations were found in 9/53 cases, no one with result of ammonia level. GCK mutations were found in 3/53 cases, and none mutations were found at HADH, SLC16A1, and HNF4A genes.

Conclusion: Mutations were found in 63% of the cases, but no clinical and molecular correlations were possible caused by a no patronization of the diagnostic exams and medical treatment.

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