Congenital hyperinsulinism as a part of Kabuki syndrome
https://doi.org/10.14341/probl13145
Abstract
Kabuki syndrome is a rare hereditary disease characterized by distinctive facial features, skeletal abnormalities, mental retardation, developmental delay, and anomalies in multiple organ systems development.
Congenital hyperinsulinism is a rare manifestation of his Kabuki syndrome. However, early diagnosis is crucial to prevent neurological complications of hypoglycemia.
There are 2 types of Kabuki Syndrome depending on severity of symptoms. Kabuki syndrome Type 1 is associated with heterozygous mutations in gene KMT2D. Kabuki syndrome Type 2 is inherited in an X-linked manner. It’s associated with heterozygous mutations in gene KDM6A and characterized by more severe course of the disease.
This paper presents 2 cases of children with congenital hyperinsulinism as the feature of Kabuki syndrome Type 1 and Type 2.
About the Authors
A. R. Benina
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Anastasia R. Benina.
11 Dm. Ulyanova street, 117036 Moscow.
Competing Interests:
None
M. A. Melikyan
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Maria Melikyan - MD, PhD.
Moscow.
SPIN-код: 4184-4383
Competing Interests:
None
References
1. Mısırlıgil M, Yıldız Y, Akın O, et al. A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome. J Clin Res Pediatr Endocrinol. 2021;13(4):452-455. doi: https://doi.org/10.4274/jcrpe.galenos.2020.2020.0065
2. Bögershausen N, Wollnik B. Unmasking Kabuki syndrome. Clin Genet. 2013;83(3):201-211. doi: https://doi.org/10.1111/cge.12051
3. “Kabuki Syndrome Clinical Management Guidelines Management of Kabuki Syndrome A Clinical Guideline.”
4. Gole H, Chuk R, Coman D. Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. Clin Pract. 2016;6(3):848. doi: https://doi.org/10.4081/cp.2016.848
5. Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Kabuki Syndrome—Clinical Review with Molecular Aspects. Genes (Basel). 2021;12(4):468. doi: https://doi.org/10.3390/genes12040468
6. Salguero M V, Chan K, Greeley SAW, et al. Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO. J Endocr Soc. 2022;6(4):468. doi: https://doi.org/10.1210/jendso/bvac015
7. Yap KL, Johnson AEK, Fischer D, et al. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. Genet Med. 2019;21(1):233-242. doi: https://doi.org/10.1038/s41436-018-0013-9
8. Zarate YA, Zhan H, Jones JR. Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation. Mol Syndromol. 2012;3(4):180-184. doi: https://doi.org/10.1159/000342253
9. Adam MP, Hudgins L, Syndrome HMK, et al. Kabuki Syndrome Synonyms: Kabuki Make-Up Syndrome, Niikawa-Kuroki Syndrome. GeneReviews. 2011.
10. Hoermann H, El‐Rifai O, Schebek M, et al. Comparative meta‐analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia. Clin Endocrinol (Oxf). 2020;93(3):346-354. doi: https://doi.org/10.1111/cen.14267
11. Subbarayan A, Hussain K. Hypoglycemia in Kabuki syndrome. Am J Med Genet Part A. 2014;164(2):467-471. doi: https://doi.org/10.1002/ajmg.a.36256
Supplementary files
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1. Figure 1. A — Patient 1's hands (palmar surface). Brachydactyly, "fetal" fingertips, striated palms are noted. B — hands of patient 1. | |
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2. Figure 2A. Photo of the patient 2. Dysembryogenesis stigmas: long filter, protruding cupped auricles. | |
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3. Figure 2B. Photo of the patient 2. Stigmas of disembryogenesis: protruding cup-shaped auricles. | |
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Review
For citations:
Benina A.R., Melikyan M.A. Congenital hyperinsulinism as a part of Kabuki syndrome. Problems of Endocrinology. 2022;68(5):91-96. (In Russ.) https://doi.org/10.14341/probl13145
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