The difficult management of persistent, non‐focal congenital hyperinsulinism: A retrospective review from a single, tertiary center
First published:29 January 2020
This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/pedi.12989.
Abstract
Background
Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with transient or persistent hypoglycemia. Histologically, focal, diffuse, and atypical forms of CHI exist, and at least 11 disease‐causing genes have been identified.
Methods
We retrospectively evaluated the treatment and outcome of a cohort of 40 patients with non‐focal, persistent CHI admitted to the International Hyperinsulinism Center, Denmark, from January 2000 to May 2017.
Results
Twenty‐two patients (55%) could not be managed with medical monotherapy (diazoxide or octreotide) and six (15%) patients developed severe potential side effects to medication. Surgery was performed in 17 (43%) patients with resection of 66‐98% of the pancreas. Surgically treated patients had more frequently KATP‐channel gene mutations (surgical treatment 12/17 vs conservative treatment 6/23, P = 0.013), highly severe disease (15/17 vs 13/23, P = 0.025) and clinical onset <30 days of age (15/17 vs 10/23, P = 0.004).
At last follow‐up at median 5.3 (range: 0.3‐31.3) years of age, 31/40 (78%) patients still received medical treatment, including 12/17 (71%) after surgery. One patient developed diabetes after an 98% pancreatic resection. Problematic treatment status was seen in 7/40 (18%). Only 8 (20%) had clinical remission (three spontaneous, five after pancreatic surgery). Neurodevelopmental impairment (n = 12, 30%) was marginally associated with disease severity (P = 0.059).
Conclusion
Persistent, non‐focal CHI remains difficult to manage. Neurological impairment in 30% suggests a frequent failure of prompt and adequate treatment. A high rate of problematic treatment status at follow‐up demonstrates an urgent need for new medical treatment modalities.
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