지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
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 제24권 제1호
- 발행연도
- 2019.1
- 수록면
- 64 - 67 (4page)
이용수
초록· 키워드
오류제보하기
Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause of idiopathic infantile hypercalcemia. This report describes a female infant admitted for evaluation of nephrocalcinosis. She presented with hypercalcemia, hypercalciuria, low intact parathyroid hormone level, and high 1,25-dihydroxyvitamin D3 level. Exome sequencing identified novel compound heterozygous mutations in SLC34A1 (c.1337G>A, c.1483C>T). The patient was treated with fluids for hydration, furosemide, a corticosteroid, and restriction of calcium/vitamin D intake. At the age of 7 months, the patient's calcium level was within the normal range, and hypercalciuria waxed and waned. Renal echogenicity improved on the follow-up ultrasonogram, and developmental delay was not noted. In cases of hypercalcemia with subsequent hypercalciuria, DNA analysis for SLC34A1 gene mutations and CYP24A1 gene mutations should be performed. Further studies are required to obtain long-term data on hypercalciuria and nephrocalcinosis.
목차
등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
Lightwood R / 1953 / Idiopathic hypercalcaemia in infants / Lancet 265:255~256
Koltin D / 2011 / Mild infantile hypercalcemia: diagnostic tests and outcomes / J Pediatr 159:215~221.e1
Schlingmann KP / 2011 / Mutations in CYP24A1 and idiopathic infantile hypercalcemia / N Engl J Med 365:410~421
Schlingmann KP / 2016 / Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia / J Am Soc Nephrol 27:604~614
Rajagopal A / 2014 / Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis / J Clin Endocrinol Metab 99:E2451~E2456
Koltin D / 2011 / Mild infantile hypercalcemia: diagnostic tests and outcomes / J Pediatr 159:215~221.e1
Schlingmann KP / 2011 / Mutations in CYP24A1 and idiopathic infantile hypercalcemia / N Engl J Med 365:410~421
Schlingmann KP / 2016 / Autosomal-recessive mutations in SLC34A1 encoding sodium-phosphate cotransporter 2A cause idiopathic infantile hypercalcemia / J Am Soc Nephrol 27:604~614
Rajagopal A / 2014 / Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis / J Clin Endocrinol Metab 99:E2451~E2456
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Idiopathic infantile hypercalcemia with severe nephrocalcinosis, associated with CYP24A1 mutations: a case report
Childhood Kidney Diseases
2022 .06
-
비타민 D 고용량 주사로 인한 심한 고칼슘혈증 발생 1예
의생명과학
2019 .01
-
A Case of Severe Hypercalcemia Causing Acute Kidney Injury: An Unusual Presentation of Acute Lymphoblastic Leukemia
Childhood Kidney Diseases
2017 .01
-
Immobilization-induced symptomatic hypercalcemia treated with zoledronate in a child with a left ventricular assist device
Annals of Pediatirc Endocrinology & Metabolism
2021 .09
-
A successful treatment of hypercalcemia with zoledronic acid in a 15-year-old boy with acute lymphoblastic leukemia
Annals of Pediatirc Endocrinology & Metabolism
2016 .01
-
성인 고형암 환자의 고칼슘혈증 치료현황과 치료효과 분석
한국임상약학회지
2019 .01
-
Clinical Characteristics, Causes and Survival in 115 Cancer Patients with Parathyroid Hormone Related Protein-mediated Hypercalcemia
대한골대사학회지
2017 .01
-
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Annals of Laboratory Medicine
2017 .01
-
A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct
Clinical and Experimental Otorhinolaryngology
2017 .01
-
Dermatomyositis Presenting as Life-threatening Hypercalcemia
대한류마티스학회지
2020 .01
-
Hypercalcemia as Initial Presentation of Metastatic Adenocarcinoma of Gastric Origin: A Case Report and Review of the Literature
Journal of Gastric Cancer
2016 .01
-
Hypercalciuria and febrile convulsion in children under 5 years old
Clinical and Experimental Pediatrics
2018 .01
-
전신홍반루푸스와 동반된 고칼슘혈증 증례
대한내과학회지
2017 .06
-
칼슘 제제 복용 후 발생한 우유알칼리증후군
Journal of Yeungnam Medical Science
2016 .06
-
칼슘 제제 복용 후 발생한 우유알칼리증후군
영남의대학술지
2016 .01
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
갑상선 수술 후 부갑상선 기능 저하 환자에서 발생한 우유-알칼리 증후군 1
대한이비인후-두경부외과학회지
2015 .01
-
Case of Sarcoidosis-Related Hypercalcemia with Normal Serum 1,25(OH)2D
대한내과학회지
2015 .01
-
Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria
Childhood Kidney Diseases
2018 .01
-
mRNA Expression of SLC5A5 and SLC2A Family Genes in Papillary Thyroid Cancer: An Analysis of The Cancer Genome Atlas
Yonsei Medical Journal
2018 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0