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Vitamin D Dependent Rickets 2

MedGen UID:
1378008
•Concept ID:
C4331504
•
Disease or Syndrome

Definition

An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets and alopecia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVitamin D Dependent Rickets 2

Professional guidelines

PubMed

Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J, Molin A
J Clin Endocrinol Metab 2023 Mar 10;108(4):812-826. doi: 10.1210/clinem/dgac639. PMID: 36321535
Alkaline Phosphatase: An Old Friend as Treatment Target for Cardiovascular and Mineral Bone Disorders in Chronic Kidney Disease.
Haarhaus M, Cianciolo G, Barbuto S, La Manna G, Gasperoni L, Tripepi G, Plebani M, Fusaro M, Magnusson P
Nutrients 2022 May 19;14(10) doi: 10.3390/nu14102124. PMID: 35631265Free PMC Article
Treatment of hyperphosphatemia: the dangers of high PTH levels.
Bacchetta J
Pediatr Nephrol 2020 Mar;35(3):493-500. Epub 2019 Nov 6 doi: 10.1007/s00467-019-04400-w. PMID: 31696357

Recent clinical studies

Etiology

The pathophysiology of hypophosphatemia.
Ito N, Hidaka N, Kato H
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101851. Epub 2023 Nov 30 doi: 10.1016/j.beem.2023.101851. PMID: 38087658
Alkaline Phosphatase: An Old Friend as Treatment Target for Cardiovascular and Mineral Bone Disorders in Chronic Kidney Disease.
Haarhaus M, Cianciolo G, Barbuto S, La Manna G, Gasperoni L, Tripepi G, Plebani M, Fusaro M, Magnusson P
Nutrients 2022 May 19;14(10) doi: 10.3390/nu14102124. PMID: 35631265Free PMC Article
Mechanisms and Regulation of Intestinal Phosphate Absorption.
Hernando N, Wagner CA
Compr Physiol 2018 Jun 18;8(3):1065-1090. doi: 10.1002/cphy.c170024. PMID: 29978897
Vitamin D status and food security in North-East Asia.
Wahlqvist ML
Asia Pac J Clin Nutr 2013;22(1):1-5. doi: 10.6133/apjcn.2013.22.1.21. PMID: 23353604
The effect of Vitamin D on falls and fractures.
Ringe JD
Scand J Clin Lab Invest Suppl 2012;243:73-8. doi: 10.3109/00365513.2012.681965. PMID: 22536766

Diagnosis

The pathophysiology of hypophosphatemia.
Ito N, Hidaka N, Kato H
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101851. Epub 2023 Nov 30 doi: 10.1016/j.beem.2023.101851. PMID: 38087658
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
Genetic Diseases of Vitamin D Metabolizing Enzymes.
Jones G, Kottler ML, Schlingmann KP
Endocrinol Metab Clin North Am 2017 Dec;46(4):1095-1117. Epub 2017 Oct 5 doi: 10.1016/j.ecl.2017.07.011. PMID: 29080636
Genetic disorders of Vitamin D biosynthesis and degradation.
Miller WL
J Steroid Biochem Mol Biol 2017 Jan;165(Pt A):101-108. Epub 2016 Apr 6 doi: 10.1016/j.jsbmb.2016.04.001. PMID: 27060335
Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197

Therapy

Vitamin D deficiency or resistance and hypophosphatemia.
Sarathi V, Dhananjaya MS, Karlekar M, Lila AR
Best Pract Res Clin Endocrinol Metab 2024 Mar;38(2):101876. Epub 2024 Jan 30 doi: 10.1016/j.beem.2024.101876. PMID: 38365463
Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review.
Mantoanelli L, de Almeida CM, Coelho MCA, Coutinho M, Levine MA, Collett-Solberg PF, Bordallo AP
Calcif Tissue Int 2023 Apr;112(4):512-517. Epub 2023 Jan 19 doi: 10.1007/s00223-022-01051-2. PMID: 36656330Free PMC Article
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197
The effect of Vitamin D on falls and fractures.
Ringe JD
Scand J Clin Lab Invest Suppl 2012;243:73-8. doi: 10.3109/00365513.2012.681965. PMID: 22536766

Prognosis

Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.
Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Treatment of hyperphosphatemia: the dangers of high PTH levels.
Bacchetta J
Pediatr Nephrol 2020 Mar;35(3):493-500. Epub 2019 Nov 6 doi: 10.1007/s00467-019-04400-w. PMID: 31696357
Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
Wagner CA, Rubio-Aliaga I, Hernando N
Pediatr Nephrol 2019 Apr;34(4):549-559. Epub 2017 Dec 23 doi: 10.1007/s00467-017-3873-3. PMID: 29275531
CYP2R1 mutations causing vitamin D-deficiency rickets.
Thacher TD, Levine MA
J Steroid Biochem Mol Biol 2017 Oct;173:333-336. Epub 2016 Jul 27 doi: 10.1016/j.jsbmb.2016.07.014. PMID: 27473561
Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197

Clinical prediction guides

Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J, Molin A
J Clin Endocrinol Metab 2023 Mar 10;108(4):812-826. doi: 10.1210/clinem/dgac639. PMID: 36321535
Treatment of hyperphosphatemia: the dangers of high PTH levels.
Bacchetta J
Pediatr Nephrol 2020 Mar;35(3):493-500. Epub 2019 Nov 6 doi: 10.1007/s00467-019-04400-w. PMID: 31696357
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C, Miyamoto KI
Pflugers Arch 2019 Jan;471(1):149-163. Epub 2018 Aug 14 doi: 10.1007/s00424-018-2184-2. PMID: 30109410
CYP2R1 mutations causing vitamin D-deficiency rickets.
Thacher TD, Levine MA
J Steroid Biochem Mol Biol 2017 Oct;173:333-336. Epub 2016 Jul 27 doi: 10.1016/j.jsbmb.2016.07.014. PMID: 27473561
Molecular genetics of vitamin D- dependent hereditary rickets.
Kato S, Yoshizazawa T, Kitanaka S, Murayama A, Takeyama K
Horm Res 2002;57(3-4):73-8. doi: 10.1159/000057955. PMID: 12006701

Recent systematic reviews

Vitamin D-Dependent Rickets Type 3: A Case Report and Systematic Review.
Mantoanelli L, de Almeida CM, Coelho MCA, Coutinho M, Levine MA, Collett-Solberg PF, Bordallo AP
Calcif Tissue Int 2023 Apr;112(4):512-517. Epub 2023 Jan 19 doi: 10.1007/s00223-022-01051-2. PMID: 36656330Free PMC Article
Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.
Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention.
Litaiem N, Chabchoub I, Bacha T, Slouma M, Zeglaoui F, Khachemoune A
Photodermatol Photoimmunol Photomed 2020 Sep;36(5):339-350. Epub 2020 Jul 24 doi: 10.1111/phpp.12590. PMID: 32645757
Serum 25-hydroxyvitamin D response to vitamin D supplementation in infants: a systematic review and meta-analysis of clinical intervention trials.
Zittermann A, Pilz S, Berthold HK
Eur J Nutr 2020 Feb;59(1):359-369. Epub 2019 Feb 5 doi: 10.1007/s00394-019-01912-x. PMID: 30721411

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