Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center
-
Katharina Warncke
,
Franziska Falco
Abstract
Background:
Congenital hyperinsulinism (CHI) is a rare disease with an estimated incidence of 1:40,000 live births. Here, we characterize 11 patients treated at Munich Children’s Hospital Schwabing.
Methods:
We analyzed data on birth, treatment and laboratory results including genetic testing and evaluated the long-term course with a follow-up visit.
Results:
All patients had severe, diazoxide-(DZX)-resistant hypoglycemia, beginning immediately after birth. Two patients were treated by medical therapy, eight underwent subtotal pancreatectomy and one had a partial resection. Both patients who had medical therapy still suffer from occasional hypoglycemia. Six patients with subtotal pancreatectomy were affected by mild hypoglycemia. Seventy-five percent of patients who had surgical treatment developed diabetes mellitus (DM) at a median age of 10.5 (8–13) years. In 89% of patients with available genetic testing, mutations of the ABCC8 gene were detected.
Conclusions:
The majority of CHI-patients not responding to DZX underwent surgery. After subtotal pancreatectomy, patients typically developed diabetes around early puberty.
Acknowledgments
We thank all participating patients and their families. We acknowledge Prof. Dr. F. Höpner who performed surgery, and Dr. F. Prantl who performed the histopathological investigations.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission. W.B. and F.F. conceived the study, designed it and organized and carried out the follow-up visits. I.E., W.R., J.S., D. F, K.W. and S.B. treated the CHI patients and gave major input for this publication. K.W. wrote the draft of the manuscript, which was reviewed and revised by all authors. This work forms part of the dissertation of F.F. (Technische Universität München).
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2016 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
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- Endoglin and obestatin levels, cardiometabolic risk factors and subclinical atherosclerosis in children aged 10–18 years
- Lipoprotein-associated phospholipase A2 activity and low-density lipoprotein subfractions after a 2-year treatment with atorvastatin in adolescents with type 1 diabetes
- Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center
- Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls
- Case Reports
- A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism
- Primary hyperparathyroidism may masquerade as rickets-osteomalacia in vitamin D replete children
- Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity
- Severe malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome
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Artikel in diesem Heft
- Frontmatter
- Review
- An update on thyroid-associated ophthalmopathy in children and adolescents
- Mini Review
- Systematic review and meta-analysis of the association between mumps during childhood and risk of type 1 diabetes mellitus
- Original Articles
- Glycemic variability predicts inflammation in adolescents with type 1 diabetes
- Prevalence and risk factors for diabetic retinopathy in a hospital-based population of Australian children and adolescents with type 1 diabetes
- One month of omega-3 fatty acid supplementation improves lipid profiles, glucose levels and blood pressure in overweight schoolchildren with metabolic syndrome
- The outcome of seven patients with hereditary tyrosinemia type 1
- Increased oxidative stress parameters in children with moderate iodine deficiency
- Relationship between 25(OH)D levels and circulating lipids in African American adolescents
- Endoglin and obestatin levels, cardiometabolic risk factors and subclinical atherosclerosis in children aged 10–18 years
- Lipoprotein-associated phospholipase A2 activity and low-density lipoprotein subfractions after a 2-year treatment with atorvastatin in adolescents with type 1 diabetes
- Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center
- Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls
- Case Reports
- A novel insulin receptor mutation in an adolescent with acanthosis nigricans and hyperandrogenism
- Primary hyperparathyroidism may masquerade as rickets-osteomalacia in vitamin D replete children
- Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity
- Severe malnutrition causing superior mesenteric artery syndrome in an adolescent with Triple A syndrome
- Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta
