open access

Vol 66, No 4 (2015)
Original papers
Published online: 2015-08-31
Submitted: 2014-09-29
Accepted: 2014-12-15
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Congenital hyperinsulinism in polish patients — how can we optimize clinical management?

Marta Buraczewska, Ewa Szymanska, Agnieszka Brandt, Przemyslawa Jarosz-Chobot, Jolanta Sykut-Cegielska, Ewa Barg, Maciej Borowiec, Wojciech Młynarski, Małgorzata Myśliwiec
DOI: 10.5603/EP.2015.0041
·
Endokrynologia Polska 2015;66(4):322-328.

open access

Vol 66, No 4 (2015)
Original papers
Published online: 2015-08-31
Submitted: 2014-09-29
Accepted: 2014-12-15

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)

Get Citation

Keywords

congenital hyperinsulinism, Diazoxide, 18-F-DOPA-PET

About this article
Title

Congenital hyperinsulinism in polish patients — how can we optimize clinical management?

Journal

Endokrynologia Polska

Issue

Vol 66, No 4 (2015)

Pages

322-328

Published online

2015-08-31

DOI

10.5603/EP.2015.0041

Bibliographic record

Endokrynologia Polska 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

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