Open AccessMorning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation
Author(s) -
So Jeong Kim,
Jeong Eun Lee,
Hyun Duck Kwak,
Mi Seon Kang,
Seong Ah Yu,
Go Hun Seo,
Soo-Cheol Oh,
Woo Yeong Chung
Publication year - 2021
Publication title -
childhood kidney diseases
Language(s) - English
Resource type - Journals
eISSN - 2384-0250
pISSN - 2384-0242
DOI - 10.3339/jkspn.2021.25.2.128
Subject(s) - alport syndrome , medicine , glomerular basement membrane , renal biopsy , nephropathy , biopsy , short stature , dermatology , visual acuity , glomerulonephritis , mutation , pediatrics , pathology , kidney , genetics , endocrinology , surgery , biology , gene , diabetes mellitus
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.