갈락토키나아제 결핍증과 척수근위축증을 동반하여 나타난 양안 각막혼탁
Bilateral Corneal Opacities with Galactokinase Deficiency and Spinal Muscular Atrophy
0
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
목적: 갈락토키나아제 결핍증에 드문 척수근위축증인 쿠겔베르그-웰란더병과 양안 각막혼탁이 동반되어 나타난 1예를 경험하였기에 이를 보고하고자 한다. 증례요약: 6세 여자 환자가 양안 각막의 중심에서 간유리같은 혼탁이 기질표층에서 관찰되어 내원하였다. 환아는 운동발달 지연을 보였다. 근육생검상 골격근 신경위축증의 하나인 척수근위축증 제 3형인 쿠겔베르그-웰란더병으로 진단되었다. 갈락토오스혈증효소검사상 갈락토키나아제 결핍증으로 진단받았으며, 유전자 변이 분석에서 17q24에서 갈락토키나아제의 A198V 변이인 “오사카” 변이가 관찰되었다. 결론: 갈락토키나아제 결핍증 환아에서 척수근위축증 3형과 양안 각막혼탁이 동반되어 나타났다.
Abstract
Purpose: To report a case of bilateral corneal opacities and rare spinal muscular atrophy type III (Kugelberg-Welander disease) in a galactokinase-deficiency patient. Case summary: A 6-year-old female presented with bilateral ground glass-like superficial stromal corneal opacities in the corneal center. The patient exhibited developmental motor delay. On muscle biopsy, skeletal muscle neurogenic atrophy consistent with spinal muscular atrophy type III, i.e., Kugelberg-Welander disease, was diagnosed, as well as galactokinase deficiency. On genetic examination, mutation analysis showed an A198V mutation of galactokinase in chromosome 17q24 (“Osaka” variant). Conclusions: Bilateral corneal opacities and spinal muscular atrophy type III was found in a galactokinase-deficiency patient.
참고문헌 (15)
- Rahi JS, "Taylor and Hoyt's Pediatric Ophthalmology and Strabismus" (2012), Elsevier
- Gitzelmann R, "Deficiency of erythrocyte galactokinase in a patient with galactose diabetes", Lancet, 2, pp.670~671 (1965)
- Stambolian D, "Cloning of the galactokinase gene and identification of mutations in two families with cataract", Nat Genet, 10, pp.307~312 (1995)
- Lefebvre S, "Identification and characterization of a spinal muscular atrophy-determining gene", Cell, 80, pp.155~165 (1995)
- Hahnen E., "Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy : evidence of homozygous deletions of the SMN gene in unaffected individuals", Hum Mol Genet, 4, pp.1927~1933 (1995)
- Okano Y, "A genetic factor for age-related cataract : identification and characterization of a novel galactokinase variant, "Osaka, "in Asians", Am J Hum Genet, 68, pp.1036~1042 (2001)
- Futerman AH, "The cell biology of lysosomal storage disorders", Nat Rev Mol Cell Biol, 5, pp.554~565 (2004)
- Northover H, "Mucopolysaccharidosis type IVA(Morquio syndrome) : a clinical review", J Inherit Metab Dis, 19, pp.357~365 (1996)
- Faras H, "Classic galactosemia presenting with unilateral Peters’ anomaly", Med Princ Pract, 19, pp.324~326 (2010)
- Schmidt D, "Congenital ocular malformations(lens subluxation, pupillary displacement, cataract, myopia)and classic glactosemia associated with Q188R and", or G1391A mutations, 2011, pp.89, 489~494
- Laumonier E, "Vitreous hemorrhage in a neonate with galactosemia. A case report", J Fr Ophthalmol, 28, pp.490~496 (2005)
- Hodes BL, "Macular deposits in galactokinase deficiency", Metab Pediatr Syst Ophthalmol, 8, pp.39~42 (1985)
- Lowe MT, "The outcome of corneal transplantation in infants, children, and adolescents", Ophthalmology, 118, pp.492~497 (2011)
- Mahadevan MS, "SMA genes : deleted and duplicated", Nat Genet, 9, pp.112~113 (1995)
- Roy N, "The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy", Cell, 80, pp.167~178 (1995)