The natural course of idiopathic ketotic hypoglycemia.

Ende, R. van der (Rixt) (2014) The natural course of idiopathic ketotic hypoglycemia. thesis, Medicine.

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Abstract

intolerance and defined as recurrent neurohypoglycemic symptoms with ketosis in children. IKH is a diagnosis per exclusion, of which the diagnostic tests do not indicate a traditional monogenetic inborn error of metabolism (IEM). The etiology and pathophysiology of IKH are incompletely understood and long-term follow-up data of IKH patients have not been reported before. Therefore we performed this retrospective study on the natural course of IKH in a well-selected cohort. In addition, we performed a systematic literature search. Mean age at onset was 51.1 (± 5.9) months. More boys were diagnosed with IKH (41 out of 68 patients). Children with IKH were in general smaller than other children, median z-score for height was -1.5 (range -3.2 - 3.7), and they were more vulnerable to diseases, like infections (37%). We found clinical manifestations that have not been described before. Common clinical manifestations in our cohort of IKH patients during follow-up were convulsions (25%), apparent life threatening events (ALTE) (3%), developmental retardation (13%), electroencephalogram (EEG) abnormalities (3%), attention deficit hyperactivity disorder (ADHD) (9%), pervasive developmental disorder – not otherwise specified (PDD-NOS) (9%), behavior disorders (13%), problems with eating (9%), asthma (13%) and eczema (10%). Based on the systematic literature study, most common manifestations described, were convulsions, cataracts, EEG abnormalities and developmental retardation. This study increases the knowledge on the natural course of IKH. This has implications for monitoring of IKH patients in the future. We recommend focusing on the common clinical manifestations described in this study during the follow-up, to optimize the development of patients.

Item Type:	Thesis (Thesis)
Supervisor name:	Derks, Dr. T.G.J.
Faculty:	Medical Sciences
Date Deposited:	25 Jun 2020 10:57
Last Modified:	25 Jun 2020 10:57
URI:	https://umcg.studenttheses.ub.rug.nl/id/eprint/1748

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