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22대 대한민국 국회 국회정보길라잡이 국회의원검색
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Kabuki syndrome (KS) is a rare congenital disorder characterized by distinctive craniofacial features, skeletal anomalies, dermatoglyphic variations, intellectual disability, and postnatal growth restriction.

Pathogenic variants in KMT2D and KDM6A are identified in approximately 80% of affected individuals.

Although hypoglycemia has been regarded as an uncommon manifestation, emerging evidence suggests that hyperinsulinemic hypoglycemia (HH) may represent an underrecognized feature of KS, particularly in neonates before characteristic dysmorphic features become apparent. We describe two neonates with genetically confirmed KS who initially presented with HH, representing the first reported cases of this association in Korea. A KDM6A mutation was identified in Patient 1, and diazoxide treatment successfully maintained normoglycemia. Patient 2 carried a KMT2D mutation and demonstrated improvement following treatment with diazoxide and hydrocortisone, allowing discontinuation of therapy. Persistent HH during the neonatal period may serve as an early indicator of KS, prompting timely genetic testing.

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Factors affecting neonatal intensive care unit length of stay in preterm infants receiving dysphagia rehabilitation therapy : a retrospective study Kyung Nam Kim, Cheong Jun Moon, Bo Young Hong, Jung Hyun Lee p. 97-106
Kabuki syndrome presenting with congenital hyperinsulinemic hypoglycemia : the first neonatal case reports in Korea Eun Yeong Chang, Misun Yang, So Yoon Ahn, Se In Sung, Yun Sil Chang, Ja-Hyun Jang, Hyung-Doo Park p. 107-111
Clinical application of vaginal micronized progesterone for prevention of miscarriage : a recent comprehensive review Iseul Kim, Sujin Bae, Hyeju Han, Sunghun Na p. 91-96
Nephrotoxicity due to acyclovir in chickenpox (varicella) with pregnant woman : a case report Hyeju Han, Iseul Kim, Sujin Bae, Heejoo Hong, M Sejin Lee, Sunghun Na p. 112-114

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