Childhood Kidney Diseases

  • 제25권2호
  • /
  • Pages.128-132
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  • 2021
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  • 2384-0242(pISSN)
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  • 2384-0250(eISSN)
대한소아신장학회 (Korean Society of Pediatric Nephrology)
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Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

  • Kim, So Jeong (Department of Pediatrics, Busan Paik Hospital, Inje University) ;
  • Lee, Jeong Eun (Department of Pediatrics, Busan Paik Hospital, Inje University) ;
  • Kwak, Hyun Duck (Department of Ophthalmology, Busan Paik Hospital, Inje University) ;
  • Kang, Mi Seon (Department of Patholgy, Busan Paik Hospital, Inje University) ;
  • Yu, Seong Ah (Busan Regional Rare Disease Center) ;
  • Seo, Go Hun (3billion, Inc.) ;
  • Oh, Seung Hwan (Department of Laboratory Medicine, Yangsan Busan National University Hospital) ;
  • Chung, Woo Yeong (Department of Pediatrics, Busan Paik Hospital, Inje University)
  • 투고 : 2021.09.16
  • 심사 : 2021.11.02
  • 발행 : 2021.12.31
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초록

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS.

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참고문헌

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