Literature DB >> 23768816

Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations.

Mireille Castanet1, Eric Mallet, Marie-Laure Kottler.   

Abstract

A novel mutation in CYP24A1 provides insight into idiopathic infantile hypercalcemia. In this report of 3 brothers, in twins supplemented with vitamin D (1900 IU/d), only the twin homozygous for CYP24A1 exhibited idiopathic infantile hypercalcemia. A subsequently affected younger brother given vitamin D 400 IU/d was not hypercalcemic.
Copyright © 2013 Mosby, Inc. All rights reserved.

Entities:  

Keywords:  1,25(OH)2D; 1,25-dihydroxyvitamin D; IIH; Idiopathic infantile hypercalcemia; PCR; PTH; Parathyroid hormone; Polymerase chain reaction

Mesh：

Substances：

Year:  2013        PMID： 23768816     DOI： 10.1016/j.jpeds.2013.04.056

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  12 in total

1.  A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.

Authors:  Pietro Manuel Ferraro; Angelo Minucci; Aniello Primiano; Elisa De Paolis; Jacopo Gervasoni; Silvia Persichilli; Alessandro Naticchia; Ettore Capoluongo; Giovanni Gambaro
Journal:  Urolithiasis       Date:  2016-09-17       Impact factor: 3.436

2.  25-Hydroxyvitamin D Can Interfere With a Common Assay for 1,25-Dihydroxyvitamin D in Vitamin D Intoxication.

Authors:  Colin P Hawkes; Sarah Schnellbacher; Ravinder J Singh; Michael A Levine
Journal:  J Clin Endocrinol Metab       Date:  2015-06-29       Impact factor: 5.958

3.  Quantitation of CYP24A1 enzymatic activity with a simple two-hybrid system.

Authors:  Amy Mugg; Balazs Legeza; Meng Kian Tee; Izabella Damm; Roger K Long; Walter L Miller
Journal:  J Clin Endocrinol Metab       Date:  2014-11-06       Impact factor: 5.958

4.  Inherited disorders of calcium and phosphate metabolism.

Authors:  Jyothsna Gattineni
Journal:  Curr Opin Pediatr       Date:  2014-04       Impact factor: 2.856

5.  Optimal bone fracture repair requires 24R,25-dihydroxyvitamin D3 and its effector molecule FAM57B2.

Authors:  Corine Martineau; Roy Pascal Naja; Abdallah Husseini; Bachar Hamade; Martin Kaufmann; Omar Akhouayri; Alice Arabian; Glenville Jones; René St-Arnaud
Journal:  J Clin Invest       Date:  2018-07-16       Impact factor: 14.808

6.  CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.

Authors:  Jens Otto Broby Madsen; Sabrina Sauer; Bodo Beck; Jesper Johannesen
Journal:  J Clin Res Pediatr Endocrinol       Date:  2017-09-06

7.  Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature.

Authors:  Daniele Cappellani; Alessandro Brancatella; Martin Kaufmann; Angelo Minucci; Edda Vignali; Domenico Canale; Elisa De Paolis; Ettore Capoluongo; Filomena Cetani; Glenville Jones; Claudio Marcocci
Journal:  Case Rep Endocrinol       Date:  2019-04-08

8.  Biallelic CYP24A1 variants presenting during pregnancy: clinical and biochemical phenotypes.

Authors:  Tomás P Griffin; Caroline M Joyce; Sumaya Alkanderi; Liam M Blake; Derek T O'Keeffe; Delia Bogdanet; Md Nahidul Islam; Michael C Dennedy; John E Gillan; John J Morrison; Timothy O'Brien; John A Sayer; Marcia Bell; Paula M O'Shea
Journal:  Endocr Connect       Date:  2020-06       Impact factor: 3.335

9.  Juvenile onset IIH and CYP24A1 mutations.

Authors:  Karl P Schlingmann; Walburga Cassar; Martin Konrad
Journal:  Bone Rep       Date:  2018-06-21

10.  Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.

Authors:  Agnieszka Janiec; Paulina Halat-Wolska; Łukasz Obrycki; Elżbieta Ciara; Marek Wójcik; Paweł Płudowski; Aldona Wierzbicka; Ewa Kowalska; Janusz B Książyk; Zbigniew Kułaga; Ewa Pronicka; Mieczysław Litwin
Journal:  Nephrol Dial Transplant       Date:  2021-07-23       Impact factor: 5.992
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