Congenital Hyperinsulinism Caused by Novel Homozygous KATP Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families | Zendy

Shenali Anne Amaratunga | Zendy; Tara Hussein Tayeb | Zendy; Klára Roženková | Zendy; Petra Kučerová | Zendy; Štěpánka Průhová | Zendy; Jan Lebl | Zendy

Open Access

Congenital Hyperinsulinism Caused by Novel Homozygous K<sub>ATP</sub> Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families

Author(s) -

Shenali Anne Amaratunga,

Tara Hussein Tayeb,

Klára Roženková,

Petra Kučerová,

Štěpánka Průhová,

Jan Lebl

Publication year - 2020

Publication title -

hormone research in paediatrics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.816

H-Index - 89

eISSN - 1663-2826

pISSN - 1663-2818

DOI - 10.1159/000506476

Subject(s) - hypoglycemia , medicine , endocrinology , hyperinsulinism , hyperinsulinemic hypoglycemia , insulin , consanguinity , congenital hyperinsulinism , pediatrics , insulin resistance

Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Biallelic pathogenic variants in KATP channel subunit genes (ABCC8, KCNJ11), causing severe forms of CHI, are more prevalent in regions with a significant rate of consanguinity and may lead to unexplained neonatal deaths. We hypothesized that KATP channel gene variants are the cause of CHI in three unrelated children from consanguineous Kurdish families with histories of four unexplained neonatal deaths with convulsions.

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