Neonatal diabetes due to homozygousINSgene promoter mutations: Highly variable phenotype, remission and early relapse during the first 3 years of life

Demiral M., DEMİRBİLEK H., Celik K., Okur N., Hussain K., Ozbek M. N.

PEDIATRIC DIABETES, cilt.21, sa.7, ss.1169-1175, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 7
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1111/pedi.13079
  • Dergi Adı: PEDIATRIC DIABETES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1169-1175
  • Anahtar Kelimeler: INSgene, neonatal diabetes, permanent, relapse, transient, INSULIN GENE, CLINICAL CHARACTERISTICS, INS GENE, CHILDHOOD, MELLITUS
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes presenting within the first 6 months of life.INSgene promoter mutations have been shown to cause both remitting/relapsing and permanent NDM. We, herein, present three interesting patients withINSgene promoter mutations. Two cousins with an identical homozygous c.-331C > G mutation presented with NDM. The first cousin had nonremitting diabetes and still requires multidose insulin injections at the current age of 6.1 years. However, the other cousin's diabetes remitted at the age of 9 months, and she is still in remission at the age of 3 years with no medication or dietary intervention required (latest HbA1c was 4.9%). The third patient had NDM also due to a homozygousINSpromoter c.-331C>A mutation. Her diabetes remitted at the age of 2 months and relapsed at the age of 2.6 years with severe diabetic ketoacidosis (DKA). Distinct clinical phenotype and relapse with severe DKA in one of the three cases suggest thatINSpromotor mutations can cause a heterogeneous phenotype and even cases exhibiting remission can relapse unpredictably. Therefore, as the age of relapse is unpredictable, close follow-up and family education on diabetes symptoms are essential for cases with remitting/relapsing diabetes due to INS gene mutations.