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Hereditary hypophosphatemic rickets

MedGen UID:
980781
•Concept ID:
CN296404
•
Disease or Syndrome
Synonyms: hereditary hypophosphatemic rickets; Hypophosphatemic rickets
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked dominant inheritance
MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
See: This record
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)
 
Related genes: FGF23, PHEX, ENPP1, DMP1, CLCN5
 
Monarch Initiative: MONDO:0000044
OMIM® Phenotypic series: PS193100
Orphanet: ORPHA437

Definition

A group of genetic, renal phosphate wasting disorders characterized by hypophosphatemia, rickets, and normal serum levels of calcium. Characteristic clinical features include slow growth/short stature, bone pain and bone deformities. [from ORDO]

Professional guidelines

PubMed

Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation.
Alikasifoglu A, Unsal Y, Gonc EN, Ozon ZA, Kandemir N, Alikasifoglu M
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1573-1584. Epub 2021 Sep 16 doi: 10.1515/jpem-2021-0387. PMID: 34525271

Recent clinical studies

Etiology

Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R
J Bone Miner Res 2022 Aug;37(8):1580-1591. Epub 2022 Jul 8 doi: 10.1002/jbmr.4630. PMID: 35689455
Hereditary hypophosphatemic rickets and craniosynostosis.
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.
Turan I, Erdem S, Kotan LD, Ozdemir Dilek S, Tastan M, Gurbuz F, Bişgin A, Karabay Bayazıt A, Topaloglu AK, Yuksel B
J Pediatr Endocrinol Metab 2021 May 26;34(5):639-648. Epub 2021 Apr 13 doi: 10.1515/jpem-2020-0624. PMID: 33852231
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 Causes of Rickets.
Acar S, Demir K, Shi Y
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):88-105. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S008. PMID: 29280738Free PMC Article

Diagnosis

Research progress on renal calculus associate with inborn error of metabolism.
Song Y, Zhao C, Li D
Zhejiang Da Xue Xue Bao Yi Xue Ban 2023 Apr 25;52(2):169-177. doi: 10.3724/zdxbyxb-2022-0698. PMID: 37283101Free PMC Article
Hereditary hypophosphatemic rickets and craniosynostosis.
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
Congenital Conditions of Hypophosphatemia Expressed in Adults.
Marcucci G, Brandi ML
Calcif Tissue Int 2021 Jan;108(1):91-103. Epub 2020 May 14 doi: 10.1007/s00223-020-00695-2. PMID: 32409880
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 Causes of Rickets.
Acar S, Demir K, Shi Y
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):88-105. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S008. PMID: 29280738Free PMC Article

Therapy

The Measurement and Interpretation of Fibroblast Growth Factor 23 (FGF23) Concentrations.
Heijboer AC, Cavalier E
Calcif Tissue Int 2023 Feb;112(2):258-270. Epub 2022 Jun 4 doi: 10.1007/s00223-022-00987-9. PMID: 35665817Free PMC Article
Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R
J Bone Miner Res 2022 Aug;37(8):1580-1591. Epub 2022 Jul 8 doi: 10.1002/jbmr.4630. PMID: 35689455
Cellular and Molecular Alterations Underlying Abnormal Bone Growth in X-Linked Hypophosphatemia.
Fuente R, García-Bengoa M, Fernández-Iglesias Á, Gil-Peña H, Santos F, López JM
Int J Mol Sci 2022 Jan 15;23(2) doi: 10.3390/ijms23020934. PMID: 35055123Free 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
Hereditary hypophosphatemic rickets with hypercalciuria.
Tieder M, Modai D, Samuel R, Arie R, Halabe A, Bab I, Gabizon D, Liberman UA
N Engl J Med 1985 Mar 7;312(10):611-7. doi: 10.1056/NEJM198503073121003. PMID: 2983203

Prognosis

Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.
Wang L, Kulaixi G, Zaiyinati J, Aibai G, Du D, Guo Y
BMC Pediatr 2024 Feb 14;24(1):121. doi: 10.1186/s12887-024-04589-2. PMID: 38355430Free PMC Article
The Measurement and Interpretation of Fibroblast Growth Factor 23 (FGF23) Concentrations.
Heijboer AC, Cavalier E
Calcif Tissue Int 2023 Feb;112(2):258-270. Epub 2022 Jun 4 doi: 10.1007/s00223-022-00987-9. PMID: 35665817Free PMC Article
Hereditary hypophosphatemic rickets and craniosynostosis.
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.
Turan I, Erdem S, Kotan LD, Ozdemir Dilek S, Tastan M, Gurbuz F, Bişgin A, Karabay Bayazıt A, Topaloglu AK, Yuksel B
J Pediatr Endocrinol Metab 2021 May 26;34(5):639-648. Epub 2021 Apr 13 doi: 10.1515/jpem-2020-0624. PMID: 33852231
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

Clinical prediction guides

An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C
Kidney Int 2024 May;105(5):1058-1076. Epub 2024 Feb 15 doi: 10.1016/j.kint.2024.01.031. PMID: 38364990
The Measurement and Interpretation of Fibroblast Growth Factor 23 (FGF23) Concentrations.
Heijboer AC, Cavalier E
Calcif Tissue Int 2023 Feb;112(2):258-270. Epub 2022 Jun 4 doi: 10.1007/s00223-022-00987-9. PMID: 35665817Free PMC Article
Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R
J Bone Miner Res 2022 Aug;37(8):1580-1591. Epub 2022 Jul 8 doi: 10.1002/jbmr.4630. PMID: 35689455
Hereditary hypophosphatemic rickets and craniosynostosis.
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
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

Recent systematic reviews

Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.
Dodamani MH, Memon SS, Karlekar M, Lila AR, Khan M, Sarathi V, Arya S, Jamale T, Thakare S, Patil VA, Shah NS, Bergwitz C, Bandgar TR
Calcif Tissue Int 2024 Feb;114(2):137-146. Epub 2023 Nov 19 doi: 10.1007/s00223-023-01156-2. PMID: 37981601
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.
Christensen S, Tebben PJ, Sas D, Creo AL
Horm Res Paediatr 2021;94(9-10):374-389. Epub 2021 Oct 19 doi: 10.1159/000520299. PMID: 34666334

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