A case of prohormone convertase deficiency diagnosed with type 2 diabetes

Küçükali G. K., Erdeve Ş. S., Çetinkaya S., Keskin M., Buluş A. D., Aycan Z.

Turk Pediatri Arsivi, cilt.56, sa.1, ss.81-84, 2021 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 56 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.14744/turkpediatriars.2020.36459
  • Dergi Adı: Turk Pediatri Arsivi
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE
  • Sayfa Sayıları: ss.81-84
  • Anahtar Kelimeler: Diabetes mellitus, obesity, prohormone convertase, PCSK1, resistant diarrhea, PROPROTEIN CONVERTASE-1, OBESITY, PCSK1, HOMEOSTASIS, VARIANTS
  • Ankara Üniversitesi Adresli: Evet

Özet

© 2021, Kare Publishing. All rights reserved.Prohormone convertase 1/3, encoded by the proprotein convertase subtilisin/kexin type 1 gene, is essential for processing prohormones; therefore, its deficiency is characterized by a deficiency of variable levels in all hormone systems. Although a case of postprandial hypoglycemia has been previously reported in the literature, prohormone convertase insufficiency with type 2 diabetes mellitus has not yet been reported. Our case, a 14-year-old girl, was referred due to excess weight gain. She was diagnosed as having type 2 diabetes mellitus based on laboratory test results. Prohormone convertase deficiency was considered due to the history of resistant diarrhea during the infancy period and her rapid weight gain. Proinsulin level was measured as >700 pmol/L(3.60-22) during diagnosis. In genetic analysis, a c.685G> T(p.V229F) homozygous mutation in the PCSK1 gene was detected and this has not been reported in relation to this disorder. In conclusion, patients with recurrent resistant diarrhea during infancy followed by rapid weight gain need to be evaluated with the diagnosis of prohormone convertase deficiency.