A Recessive Mutation in the Insulin Gene in Neonatal Diabetes | Zendy

Abdulmoein Eid Al-Agha | Zendy; Ihab A. Ahmad | Zendy; Faten Adnan Abdullah Basnawi | Zendy; Elaf Yahia Faraj AL-Nasser | Zendy

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A Recessive Mutation in the Insulin Gene in Neonatal Diabetes

Author(s) -

Abdulmoein Eid Al-Agha,

Ihab A. Ahmad,

Faten Adnan Abdullah Basnawi,

Elaf Yahia Faraj AL-Nasser

Publication year - 2015

Publication title -

turkish journal of endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.111

H-Index - 5

ISSN - 1301-2193

DOI - 10.4274/tjem.2326

Subject(s) - medicine , mutation , diabetes mellitus , insulin , gene mutation , gene , endocrinology , genetics , biology

Neonatal diabetes mellitus (DM) is a persistent hyperglycemia occurring in the first 4-6 weeks of life that lasts more than two weeks and requires insulin for management. We report a case of a 23-day-old boy with neonatal diabetes due to recessive inheritance INS promoter C-331 C>A mutation accompanied by diabetic ketoacidosis (DKA). The hyperglycemia and ketoacidosis resolved by the 48th hour of treatment consisting of IV insulin and rehydration. Subsequently, insulin treatment was continued with neutral protamine Hagedorn (NPH) insulin. Neonatal DM due to genetic mutation may mimic sepsis and should be kept in mind for all newborns who present with shortness of breath, vomiting, and dehydration.\u

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