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1.
J Pediatr Endocrinol Metab ; 33(7): 947-950, 2020 Jul 28.
Article in English | MEDLINE | ID: mdl-32634108

ABSTRACT

Background Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin receptor analog (SSRA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects, have not been thoroughly evaluated. Case presentation Some authors have indicated that exocrine pancreatic insufficiency (EPI) is a common but under-recognized adverse reaction in adults treated with octreotide. However, no pediatric patient with SSRA-induced EPI has been reported to date. Here we report a case of an infant with diazoxide unresponsive, diffuse CH, caused by a heterozygous pathogenic paternally inherited mutation in the ABCC8 gene (NM_000352.4:c.357del), that developed exocrine pancreatic insufficiency and secondary vitamin K deficiency associated to chronic octreotide therapy. Conclusions We point out the atypical clinical onset with a cutaneous hemorrhagic syndrome, emphasizing the clinical relevance of this potential side effect.


Subject(s)
Congenital Hyperinsulinism/drug therapy , Exocrine Pancreatic Insufficiency/chemically induced , Octreotide/adverse effects , Congenital Hyperinsulinism/blood , Congenital Hyperinsulinism/genetics , Diazoxide/therapeutic use , Exocrine Pancreatic Insufficiency/therapy , Hemorrhage/diagnosis , Hemorrhage/etiology , Hemorrhage/therapy , Humans , Infant , Male , Octreotide/therapeutic use , Sulfonylurea Receptors/genetics
2.
J Pediatr Gastroenterol Nutr ; 68(3): 364-370, 2019 03.
Article in English | MEDLINE | ID: mdl-30418411

ABSTRACT

OBJECTIVES: To perform long-term celiac disease (CD) screening in an HLA-DQ2 (+) cohort from the general population and to assess the influence of risk genotypes on its development. METHODS: In 2004, an HLA-DQ2 (+) cohort was selected. After the first CD screening at age 2 to 3 years, we performed a follow-up screening 8 to 10 years later. Antitransglutaminase 2 antibodies were determined using a rapid test kit. Results were confirmed by serum IgA antitransglutaminase 2 and IgA endomysial antibody determination. CD diagnosis was carried out by intestinal biopsies. Four HLA-DQ2 genotypic groups were used: G1: DQ2.5/DQ2.5 (G1A) or DQ2.5/ DQ2.2 (G1B); G2: DQ2.2/DQ7.5 (DQ2.5 trans); G3: DQ2.5/ X; G4: DQ2.2/X. RESULTS: CD prevalence after 10 years of follow-up was 5.8% (95% confidence interval 3.8-8.7). One of every 3 HLA-DQ2(+) children carried at least 1 haplotype DQ2.2 or DQ7. The homozygous genotype DQ2.5/DQ2.5 and the HLA-DQ2.5 trans genotype increased CD risk 4- and 3-fold, respectively. The homozygous genotype DQ2.5/ DQ2.2 did not increase the CD risk. Children carrying G1 or G2 genotypes were diagnosed with CD earlier and more frequently during the follow-up compare with those carrying G3 or G4 genotypes. Approximately 81% of children with spontaneous antibody negativization after the first screening maintained negative antibodies. CONCLUSIONS: A repeated screening of at-risk children during their follow-up allowed us to diagnose new CD cases. In our cohort, HLA- DQ2.5 trans genotype conferred a higher risk in the development of CD than HLA- DQ2.5/DQ2.2. The majority of children with potential CD and CD autoimmunity at 10 years of age remained healthy.


Subject(s)
Celiac Disease/diagnosis , Genetic Predisposition to Disease/epidemiology , Celiac Disease/epidemiology , Celiac Disease/genetics , Child , Child, Preschool , Female , Follow-Up Studies , Genetic Testing , Genotype , HLA-DQ Antigens/genetics , Haplotypes , Humans , Longitudinal Studies , Male , Prevalence , Prospective Studies , Risk Factors , Spain
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