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The difficult management of persistent, non‐focal congenital hyperinsulinism: A retrospective review from a single, tertiary center
Author(s) -
Rasmussen Amalie G.,
Melikian Maria,
Globa Evgenia,
Detlefsen Sönke,
Rasmussen Lars,
Petersen Henrik,
Brusgaard Klaus,
Rasmussen Annett H.,
Mortensen Michael B.,
Christesen Henrik T.
Publication year - 2020
Publication title -
pediatric diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.678
H-Index - 75
eISSN - 1399-5448
pISSN - 1399-543X
DOI - 10.1111/pedi.12989
Subject(s) - medicine , congenital hyperinsulinism , octreotide , hypoglycemia , retrospective cohort study , pediatrics , surgery , pancreatectomy , diabetes mellitus , cohort , hyperinsulinism , single center , insulin , resection , endocrinology , somatostatin , insulin resistance
Abstract Background/Objective 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% to 98% of the pancreas. Surgically treated patients had more frequently K ATP ‐channel gene mutations (surgical treatment 12/17 vs conservative treatment 6/23, P = .013), highly severe disease (15/17 vs 13/23, P = .025) and clinical onset <30 days of age (15/17 vs 10/23, P = .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 a 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 = .059). Conclusions 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.