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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제20권 제4호
- 발행연도
- 2015.1
- 수록면
- 230 - 234 (5page)
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초록· 키워드
오류제보하기
Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance that results in urinary salt wasting, failure to thrive, metabolic acidosis, and dehydration.
PHA1 is heterogeneous in etiology. Inactivating mutations in the NR3C2 gene (4q31.1), which encodes the mineralocorticoid receptor, causes a less severe autosomal dominant form that is restricted to the kidney, while mutations in the amiloride-sensitive epithelial sodium channel gene (alpha subunit=SCNN1A, 12p13; beta subunit=SCNN1b, 16p12.2-p12.1; gamma subunit=SCNN1G, 16p12) causes a more severe autosomal recessive form, which has systemic effects. Here we report a neonatal case of kidney restricted PHA1 (renal type of PHA1) who first showed laboratory abnormalities before obvious PHA1 manifestations, with two functional polymorphisms in the NR3C2 gene. This is the second genetically confirmed case in Korea and the first to show functional polymorphisms that have previously been reported in the literature.
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Ahn HS. / 2012 / Hong Chang Yee textbook of pediatrics / Mirae N Co : 1240 ~
Amin N / 2013 / Pseudohypoaldosteronism type 1: clinical features and management in infancy / Endocrinol Diabetes Metab Case Rep 2013 : 130010 ~
Arai K / 2003 / Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism /
Chang SS / 1996 / Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1 / Nat Genet 12 : 248 ~
Cheek DB / 1958 / A salt wasting syndrome in infancy / Arch Dis Child 33 : 252 ~ 256
Amin N / 2013 / Pseudohypoaldosteronism type 1: clinical features and management in infancy / Endocrinol Diabetes Metab Case Rep 2013 : 130010 ~
Arai K / 2003 / Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism /
Chang SS / 1996 / Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1 / Nat Genet 12 : 248 ~
Cheek DB / 1958 / A salt wasting syndrome in infancy / Arch Dis Child 33 : 252 ~ 256
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