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 제2호
- 발행연도
- 2019.1
- 수록면
- 137 - 141 (5page)
이용수
초록· 키워드
오류제보하기
Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report the case of a 22-month-old toddler who presented with growth retardation and delayed development. The patient exhibited the typical laboratory findings of VDDR1A, including hypocalcemia (calcium: 5.2 mg/dL), elevated serum level of alkaline phosphatase (2,600 U/L), elevated serum level of intact-parathyroid hormone (238 pg/mL), low 1,25(OH)2D3 level (11.2 pg/mL), and normal 25(OH)D3 level (40.7 ng/mL). His height and weight were 76.5 cm and 9.5 kg, respectively (both <3rd percentile). The Bayley Scales of Infant and Toddler Development II indicated significantly delayed development (mental development index <50, psychomotor development index <50). The patient was a compound heterozygous for two novel pathogenic variants in the CYP27B1 gene: c.57_69del (p.Glu20Profs*2) and c.171dupG (p.Leu58Alafs*275), inherited from his mother and father, respectively. The patient showed remarkable improvement after treatment with calcitriol and calcium carbonate.
목차
등록된 정보가 없습니다.
참고문헌 (19)
참고문헌 신청
Elder CJ / 2014 / Rickets / Lancet 383:1665~1676
Miller WL / 2017 / Genetic disorders of Vitamin D biosynthesis and degradation / J Steroid Biochem Mol Biol 165(Pt A):101~108
Fu GK / 1997 / Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1 / Mol Endocrinol 11:1961~1970
Fu GK / 1997 / Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha / DNA Cell Biol 16:1499~1507
St-Arnaud R / 1997 / The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR)disease locus / J Bone Miner Res 12:1552~1559
Miller WL / 2017 / Genetic disorders of Vitamin D biosynthesis and degradation / J Steroid Biochem Mol Biol 165(Pt A):101~108
Fu GK / 1997 / Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1 / Mol Endocrinol 11:1961~1970
Fu GK / 1997 / Complete structure of the human gene for the vitamin D 1alpha-hydroxylase, P450c1alpha / DNA Cell Biol 16:1499~1507
St-Arnaud R / 1997 / The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR)disease locus / J Bone Miner Res 12:1552~1559
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A
Annals of Pediatirc Endocrinology & Metabolism
2016 .01
-
Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation
Childhood Kidney Diseases
2019 .01
-
Formula fed twin infants with recurrent hypocalcemic seizures with vitamin D deficient rickets and hyperphosphatemia
Annals of Pediatirc Endocrinology & Metabolism
2015 .01
-
Analysis of CYP17, CYP19 and CYP1A1 Gene Polymorphisms in Iranian Women with Breast Cancer
Asian Pacific journal of cancer prevention : APJCP
2016 .01
-
Individualized treatment based on CYP3A5 single-nucleotide polymorphisms with tacrolimus in ulcerative colitis
Intestinal research
2019 .01
-
Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides
Yonsei Medical Journal
2018 .01
-
A pathogenic PHEX variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
Annals of Pediatirc Endocrinology & Metabolism
2021 .01
-
Impact of CYP1A1 variants on the risk of acute lymphoblastic leukemia: evidence from an updated meta‑analysis
Blood Research
2024 .03
-
Successful Treatment of Tolosa-Hunt Syndrome after a Single Infusion of Infliximab
Journal of Clinical Neurology
2018 .01
-
Roles of CYP2C9 and its variants (CYP2C9*2 and CYP2C9*3) in the metabolism of 6-methoxy-2-napthylacetic acid, an active metabolite of the prodrug nabumetone
Journal of Pharmaceutical Investigation
2020 .01
-
Maintenance Dose of Vitamin D: How Much Is Enough?
대한골대사학회지
2018 .01
-
Interplay of Vitamin D and CYP3A4 Polymorphisms in Endocrine Disorders and Cancer
Endocrinology and Metabolism
2022 .06
-
Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
-
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
Clinical Hypertension
2020 .01
-
Causes and Clinical Features of Transient Hypocalcemia in Newborn: A Single Center Study
Neonatal medicine
2016 .01
-
Sub-acute toxicity and effect of Hwangryunhaedok-tang on human drug-metabolizing enzymes
대한한의학회지
2017 .06
-
A Case Report of Very Severe Hyperphosphatemia (19.3mg/dL) in a Uremic Patient Taking Honey and Persimmon Vinegar
Electrolytes & Blood Pressure
2021 .12
-
Anti-inflammatory and antifatigue effect of Korean Red Ginseng in patients with nonalcoholic fatty liver disease
Journal of Ginseng Research
2016 .07
-
A Rare Case of Hyperfunctioning Lipoadenoma Presenting as a Cystic Pararthyroid Lesion
대한골대사학회지
2023 .05
-
Increment in vitamin D level and bone mineral accrual in children with vitamin D deficiency
Clinical and Experimental Pediatrics
2016 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0