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Congenital hyperinsulinism in polish patients — how can we optimize clinical management?
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Abstract
Introduction: Congenital hyperinsulinism of Infancy (CHI) comprises heterogenic defects of insulin secretion with diverse molecular aetiology, histological features, severity of symptoms, and response to pharmacotherapy. The study aimed to establish the first clinical characteristics of Polish patients with CHI and to propose a novel clinical algorithm allowing the prioritisation of genetic and radiology studies, based on patient’s characteristics and response to pharmacotherapy.
Material and methods: Thirty-one patients with CHI were recruited from five reference centres in Poland. Clinical and biochemical parameters were statistically evaluated and compared to those of a control group (n = 30).
Results: CHI predisposes to increased birth weight (p = 0.004), lower Apgar score (p = 0.004), perinatal complications (74%), and neurological implications (48%). Diagnostic process and therapy were inconsistent. A trial of pharmacotherapy was applied in 21 patients (68%), and diagnostic imaging with 18F-L-DOPA PET was performed in only 3. Eighteen patients (58%) were surgically treated, including 8 infants (44%) aged less than 2 months. Depending on the type of resection, further hypoglycaemia was observed postoperatively in 50% (n = 9) and hyperglycaemia in 39% (n = 7) of cases. Based on foregoing results, a clinical algorithm was proposed.
Conclusions: Standardisation of clinical management with the use of pharmacotherapy, genetic screening, and diagnostic imaging will allow the optimisation of therapy and minimisation of treatment complications. (Endokrynol Pol 2015; 66 (4): 322–328)
Abstract
Introduction: Congenital hyperinsulinism of Infancy (CHI) comprises heterogenic defects of insulin secretion with diverse molecular aetiology, histological features, severity of symptoms, and response to pharmacotherapy. The study aimed to establish the first clinical characteristics of Polish patients with CHI and to propose a novel clinical algorithm allowing the prioritisation of genetic and radiology studies, based on patient’s characteristics and response to pharmacotherapy.
Material and methods: Thirty-one patients with CHI were recruited from five reference centres in Poland. Clinical and biochemical parameters were statistically evaluated and compared to those of a control group (n = 30).
Results: CHI predisposes to increased birth weight (p = 0.004), lower Apgar score (p = 0.004), perinatal complications (74%), and neurological implications (48%). Diagnostic process and therapy were inconsistent. A trial of pharmacotherapy was applied in 21 patients (68%), and diagnostic imaging with 18F-L-DOPA PET was performed in only 3. Eighteen patients (58%) were surgically treated, including 8 infants (44%) aged less than 2 months. Depending on the type of resection, further hypoglycaemia was observed postoperatively in 50% (n = 9) and hyperglycaemia in 39% (n = 7) of cases. Based on foregoing results, a clinical algorithm was proposed.
Conclusions: Standardisation of clinical management with the use of pharmacotherapy, genetic screening, and diagnostic imaging will allow the optimisation of therapy and minimisation of treatment complications. (Endokrynol Pol 2015; 66 (4): 322–328)
Keywords
congenital hyperinsulinism, Diazoxide, 18-F-DOPA-PET
About this articleTitle
Congenital hyperinsulinism in polish patients — how can we optimize clinical management?
Journal
Issue
Article type
Original paper
Pages
322-328
Published online
2015-08-31
Page views
2221
Article views/downloads
2040
DOI
10.5603/EP.2015.0041
Pubmed
Bibliographic record
Endokrynol Pol 2015;66(4):322-328.
Keywords
congenital hyperinsulinism
Diazoxide
18-F-DOPA-PET
Authors
Marta Buraczewska
Ewa Szymanska
Agnieszka Brandt
Przemyslawa Jarosz-Chobot
Jolanta Sykut-Cegielska
Ewa Barg
Maciej Borowiec
Wojciech Młynarski
Małgorzata Myśliwiec
