Fructose 1,6-Bisphosphatase Deficiency and Autoimmune Disorders: A Pediatric Case

Öz

Fructose-1,6-bisphosphatase deficiency is characterized by episodic crises of lactic acidosis, ketotic hypoglycemia, hyperventilation, seizures, and coma. Our patient had a homozygous pathogenic variant [c.910-911 dubTT (p. Leu34PhefsTer2)] in FBP1 gene compatible with Fructose-1,6 bisphosphatase deficiency. When she was 3 years and 3-month-old age, the postprandial blood sugar was detected as 360 mg/dl. Hemoglobin A1c (HbA1c) level was 9.3%. Islet antibody and anti-GAD were positive. At the age of 5 years and 8 months, she underwent upper gastrointestinal endoscopy due to seropositivity for anti-transglutaminase and anti-endomysial antibodies. Duodenal biopsy demonstrated intraepithelial lymphocytosis and partial villous atrophy supporting a diagnosis of celiac disease. According to our current knowledge, the co-occurrence of Fructose-1,6 bisphosphatase deficiency with type 1 diabetes mellitus and celiac disease has not been previously reported.

Anahtar Kelimeler

• Children
• Fructose 1.6 biphosphatase
• type 1 diabetes mellitus
• celiac disease

Fruktoz 1.6 Bifosfataz Eksikliği ve Otoimmün Hastalıklar: Bir Pediatrik Olgu Sunumu

Öz

Fruktoz-1,6-bisfosfataz eksikliği; aralıklı laktik asidoz krizleri, ketotik hipoglisemi, hiperventilasyon, nöbetler ve koma ile karakterizedir. Hastamızda FBP1 geninde Fruktoz-1,6 bisfosfataz eksikliği ile uyumlu homozigot patojenik bir varyant (c.910-911 dubTT (p. Leu34PhefsTer2)) mevcut idi. 3 yaş 3 aylıkken; tokluk kan şekeri 360 mg/dl olarak tespit edildi. Hemoglobin A1c seviyesi %9,3 idi. Adacık antikoru ve Anti-GAD pozitifti. 5 yaş 8 aylıkken, anti-transglutaminaz ve anti-endomisyal antikorlara karşı seropozitiflik olması nedeniyle üst gastrointestinal endoskopi yapıldı. Duodenal biyopsi, çölyak hastalığı tanısını destekleyen intraepitelyal lenfositoz ve kısmi villöz atrofiyi gösterdi. Mevcut bilgilerimize göre, Fruktoz- 1,6 bisfosfataz eksikliğinin tip 1 diyabetes mellitus ve çölyak hastalığı ile birlikteliği daha önce bildirilmemiştir.

Anahtar Kelimeler

• Çocuklar
• Fruktoz 1.6 bifosfataz
• tip 1 diyabetes mellitus
• çölyak hastalığı

Kaynakça

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