Abstract | BACKGROUND: SUBJECTS AND METHODS: A Japanese boy who presented with symptomatic hyperinsulinemic hypoglycemia at the age of 2 days and spontaneous resolution at 1 year and 10 months was subjected to mutational analysis and repeated (18)F-DOPA PET scans. RESULTS: Mutational analysis revealed a paternally inherited monoallelic mutation, c.4186G>T (p.D1396Y), in the ABCC8 gene, and an (18)F-DOPA PET scan revealed focal uptake in the body of the pancreas. The patient was successfully treated with frequent feeding. A follow-up PET scan revealed virtually identical uptake to that observed previously. However, in the arterial stimulation-venous sampling procedure, no significant insulin release was observed. He was placed on a normal diet, and no hypoglycemia recurrence was observed. CONCLUSION: This case demonstrates two important findings. Firstly, the uptake of (18)F-DOPA does not correlate with the insulin-secreting capacity of the lesion. Secondly, clinical remission could be a functional process not necessarily accompanied by the apoptotic death of abnormal β-cells.
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Authors | Tohru Yorifuji, Yuki Hosokawa, Rika Fujimaru, Rie Kawakita, Hiraku Doi, Takako Matsumoto, Hironori Nishibori, Michiya Masue |
Journal | Hormone research in paediatrics
(Horm Res Paediatr)
Vol. 76
Issue 4
Pg. 286-90
( 2011)
ISSN: 1663-2826 [Electronic] Switzerland |
PMID | 21912073
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2011 S. Karger AG, Basel. |
Chemical References |
- ATP-Binding Cassette Transporters
- Potassium Channels, Inwardly Rectifying
- Receptors, Drug
- Sulfonylurea Receptors
- fluorodopa F 18
- Dihydroxyphenylalanine
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Topics |
- ATP-Binding Cassette Transporters
(genetics)
- Congenital Hyperinsulinism
(diagnosis)
- Dihydroxyphenylalanine
(analogs & derivatives)
- Follow-Up Studies
- Humans
- Infant
- Infant, Newborn
- Insulin-Secreting Cells
(metabolism)
- Male
- Pancreas
(metabolism)
- Positron-Emission Tomography
(methods)
- Potassium Channels, Inwardly Rectifying
(genetics)
- Receptors, Drug
(genetics)
- Sulfonylurea Receptors
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