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Familial idiopathic hypercalciuria(HCA2)

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: HCA2; Hypercalciuria, absorptive, 2; Hypercalciuria, absorptive, susceptibility to
SNOMED CT: Familial idiopathic hypercalciuria (237886009)
Gene (location): ADCY10 (1q24.2)
Monarch Initiative: MONDO:0007748
OMIM®: 143870

Clinical features

From HPO
MedGen UID:
Concept ID:
Abnormally high level of calcium in the urine.
Calcium oxalate nephrolithiasis
MedGen UID:
Concept ID:
Disease or Syndrome
Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%. Genetic Heterogeneity of Calcium Oxalate Nephrolithiasis See also CAON2 (620374), caused by mutation in the OXGR1 gene (606922) on chromosome 13q32.

Professional guidelines


Nguyen M, Boutignon H, Mallet E, Linglart A, Guillozo H, Jehan F, Garabedian M
J Pediatr 2010 Aug;157(2):296-302. Epub 2010 Apr 14 doi: 10.1016/j.jpeds.2010.02.025. PMID: 20394945
Lau KK, Butani L
Front Biosci (Elite Ed) 2009 Jun 1;1(1):299-305. doi: 10.2741/E29. PMID: 19482647

Recent clinical studies


Lerolle N, Lantz B, Paillard F, Gattegno B, Flahault A, Ronco P, Houillier P, Rondeau E
Am J Med 2002 Aug 1;113(2):99-103. doi: 10.1016/s0002-9343(02)01152-x. PMID: 12133747
Lerolle N, Coulet F, Lantz B, Paillard F, Houillier P, Soubrier F, Gattegno B, Jeunemaitre X, Ronco P, Rondeau E
Nephrol Dial Transplant 2001 Dec;16(12):2317-22. doi: 10.1093/ndt/16.12.2317. PMID: 11733622
Buckalew VM Jr
J Urol 1989 Mar;141(3 Pt 2):731-7. doi: 10.1016/s0022-5347(17)40997-9. PMID: 2645431

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