Three Sisters With Heterozygous Gene Variants of
CYP24A1
gestational
hypercalcemia
hypoglycemia
maternal
pregnancy
Journal
Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997
Informations de publication
Date de publication:
01 Feb 2019
01 Feb 2019
Historique:
received:
15
10
2018
accepted:
12
12
2018
entrez:
8
2
2019
pubmed:
8
2
2019
medline:
8
2
2019
Statut:
epublish
Résumé
Gene variants of We retrospectively investigated medical files, clinical information, and calcium levels during and after pregnancy in three sisters giving birth to nine children. All three sisters were also tested genetically. Two sisters developed hypercalcemia during all seven pregnancies and late-onset hypertension during pregnancy. These sisters had two heterozygote variants in the enzyme Combined variants of
Identifiants
pubmed: 30729229
doi: 10.1210/js.2018-00337
pii: js_201800337
pmc: PMC6356119
doi:
Types de publication
Journal Article
Langues
eng
Pagination
387-396Références
Lancet. 1953 Aug 1;265(6779):255-6
pubmed: 13070618
Endocrinology. 2005 Feb;146(2):825-34
pubmed: 15498883
Endocrinol Metab Clin North Am. 2006 Mar;35(1):157-71, vii
pubmed: 16310647
Acta Paediatr. 2006 Oct;95(10):1157-64
pubmed: 16982483
J Endocrinol. 2006 Sep;190(3):703-10
pubmed: 17003271
Endocr J. 2008 Dec;55(6):959-66
pubmed: 18614854
J Pediatr. 2010 Aug;157(2):296-302
pubmed: 20394945
Br J Nutr. 2012 Apr;107(8):1128-37
pubmed: 21896243
Endocrinol Metab Clin North Am. 2011 Dec;40(4):795-826
pubmed: 22108281
J Clin Endocrinol Metab. 2012 Mar;97(3):E423-7
pubmed: 22337913
Clin J Am Soc Nephrol. 2013 Apr;8(4):649-57
pubmed: 23293122
World J Gastroenterol. 2013 Feb 14;19(6):829-37
pubmed: 23430217
Pediatr Nephrol. 2015 Jan;30(1):145-52
pubmed: 25194629
J Clin Endocrinol Metab. 2015 Aug;100(8):2832-6
pubmed: 26097993
Clin Kidney J. 2015 Aug;8(4):453-5
pubmed: 26251716
J Bone Miner Res. 2016 Oct;31(10):1841-1844
pubmed: 27105398
J Clin Endocrinol Metab. 2017 May 1;102(5):1440-1446
pubmed: 28324001
Diabetes Metab. 2019 Jan;45(1):76-78
pubmed: 29097005
Dig Liver Dis. 2018 Aug;50(8):757-760
pubmed: 29773507