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Idiopathic inherited hypercalciuria

MedGen UID:
1433919
•Concept ID:
C0543800
•
Disease or Syndrome
Synonym: Idiopathic hypercalciuria
Modes of inheritance:
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.
Autosomal dominant inheritance (Orphanet)
 
Orphanet: ORPHA2197

Definition

A rare renal disease characterized by persistent excess urinary calcium excretion in the absence of an underlying systemic disease and hypercalcemia. The condition leads to an increased risk for the formation of kidney stones and nephrocalcinosis, as well as reduced bone mineral density with increased incidence of fractures in some patients. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIdiopathic inherited hypercalciuria

Recent clinical studies

Etiology

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
Dietary interventions for preventing complications in idiopathic hypercalciuria.
Escribano J, Balaguer A, Roqué i Figuls M, Feliu A, Ferre N
Cochrane Database Syst Rev 2014 Feb 11;2014(2):CD006022. doi: 10.1002/14651858.CD006022.pub4. PMID: 24519664Free PMC Article
Pharmacological interventions for preventing complications in idiopathic hypercalciuria.
Escribano J, Balaguer A, Pagone F, Feliu A, Roqué I Figuls M
Cochrane Database Syst Rev 2009 Jan 21;2009(1):CD004754. doi: 10.1002/14651858.CD004754.pub2. PMID: 19160242Free PMC Article
Bone mineral density in girls and their mothers with idiopathic hypercalciuria.
García-Nieto V, Navarro JF, Monge M, García-Rodríguez VE
Nephron Clin Pract 2003;94(4):c89-93. doi: 10.1159/000072491. PMID: 12972718
Abnormal red-cell calcium pump in patients with idiopathic hypercalciuria.
Bianchi G, Vezzoli G, Cusi D, Cova T, Elli A, Soldati L, Tripodi G, Surian M, Ottaviano E, Rigatti P
N Engl J Med 1988 Oct 6;319(14):897-901. doi: 10.1056/NEJM198810063191402. PMID: 2971139

Diagnosis

Inherited conditions resulting in nephrolithiasis.
Hoppe B, Martin-Higueras C
Curr Opin Pediatr 2020 Apr;32(2):273-283. doi: 10.1097/MOP.0000000000000848. PMID: 31789978
The idiopathic hypercalciuria reviewed. Metabolic abnormality or disease?
García Nieto VM, Luis Yanes MI, Tejera Carreño P, Perez Suarez G, Moraleda Mesa T
Nefrologia (Engl Ed) 2019 Nov-Dec;39(6):592-602. Epub 2019 May 31 doi: 10.1016/j.nefro.2019.02.011. PMID: 31160051
Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors.
Tasic V, Gucev Z
Pediatr Endocrinol Rev 2015 Sep;13(1):468-76. PMID: 26540764
Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.
Dinour D, Beckerman P, Ganon L, Tordjman K, Eisenstein Z, Holtzman EJ
J Urol 2013 Aug;190(2):552-7. Epub 2013 Mar 5 doi: 10.1016/j.juro.2013.02.3188. PMID: 23470222
Bone mineral density in girls and their mothers with idiopathic hypercalciuria.
García-Nieto V, Navarro JF, Monge M, García-Rodríguez VE
Nephron Clin Pract 2003;94(4):c89-93. doi: 10.1159/000072491. PMID: 12972718

Therapy

Dietary interventions for preventing complications in idiopathic hypercalciuria.
Escribano J, Balaguer A, Roqué i Figuls M, Feliu A, Ferre N
Cochrane Database Syst Rev 2014 Feb 11;2014(2):CD006022. doi: 10.1002/14651858.CD006022.pub4. PMID: 24519664Free PMC Article
Pharmacological interventions for preventing complications in idiopathic hypercalciuria.
Escribano J, Balaguer A, Pagone F, Feliu A, Roqué I Figuls M
Cochrane Database Syst Rev 2009 Jan 21;2009(1):CD004754. doi: 10.1002/14651858.CD004754.pub2. PMID: 19160242Free PMC Article
Familial occurrence of idiopathic infantile hypercalcemia.
McTaggart SJ, Craig J, MacMillan J, Burke JR
Pediatr Nephrol 1999 Oct;13(8):668-71. doi: 10.1007/s004670050678. PMID: 10502124

Prognosis

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

The idiopathic hypercalciuria reviewed. Metabolic abnormality or disease?
García Nieto VM, Luis Yanes MI, Tejera Carreño P, Perez Suarez G, Moraleda Mesa T
Nefrologia (Engl Ed) 2019 Nov-Dec;39(6):592-602. Epub 2019 May 31 doi: 10.1016/j.nefro.2019.02.011. PMID: 31160051
Update on primary hypercalciuria from a genetic perspective.
Vezzoli G, Soldati L, Gambaro G
J Urol 2008 May;179(5):1676-82. Epub 2008 Mar 17 doi: 10.1016/j.juro.2008.01.011. PMID: 18343451
Hypercalciuria revisited: one or many conditions?
Vezzoli G, Soldati L, Gambaro G
Pediatr Nephrol 2008 Apr;23(4):503-6. Epub 2007 Oct 18 doi: 10.1007/s00467-007-0574-3. PMID: 17943325
Bone mineral density in girls and their mothers with idiopathic hypercalciuria.
García-Nieto V, Navarro JF, Monge M, García-Rodríguez VE
Nephron Clin Pract 2003;94(4):c89-93. doi: 10.1159/000072491. PMID: 12972718
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
Thakker RV
Kidney Int 2000 Mar;57(3):787-93. doi: 10.1046/j.1523-1755.2000.00916.x. PMID: 10720930

Recent systematic reviews

Dietary interventions for preventing complications in idiopathic hypercalciuria.
Escribano J, Balaguer A, Roqué i Figuls M, Feliu A, Ferre N
Cochrane Database Syst Rev 2014 Feb 11;2014(2):CD006022. doi: 10.1002/14651858.CD006022.pub4. PMID: 24519664Free PMC Article
Pharmacological interventions for preventing complications in idiopathic hypercalciuria.
Escribano J, Balaguer A, Pagone F, Feliu A, Roqué I Figuls M
Cochrane Database Syst Rev 2009 Jan 21;2009(1):CD004754. doi: 10.1002/14651858.CD004754.pub2. PMID: 19160242Free PMC Article

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