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Hypercalcemia, infantile, 2(HCINF2)

MedGen UID:
934441
Concept ID:
C4310473
Disease or Syndrome
Synonym: HCINF2
 
Gene (location): SLC34A1 (5q35.3)
 
Monarch Initiative: MONDO:0014851
OMIM®: 616963

Definition

Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (143880). [from OMIM]

Clinical features

From HPO
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Finding
Abnormally high level of calcium in the urine.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Medullary nephrocalcinosis
MedGen UID:
588418
Concept ID:
C0403477
Disease or Syndrome
The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).
Renal phosphate wasting
MedGen UID:
335116
Concept ID:
C1845169
Finding
High urine phosphate in the presence of hypophosphatemia.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Hypercalcemia
MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome
An abnormally increased calcium concentration in the blood.
Hypophosphatemia
MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.

Recent clinical studies

Etiology

Ozer Bekmez B, Oguz SS
Clin Nutr 2022 Feb;41(2):415-423. Epub 2021 Dec 10 doi: 10.1016/j.clnu.2021.12.011. PMID: 35007810
Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, Levine MA, Sochett E
J Clin Endocrinol Metab 2021 Sep 27;106(10):2938-2948. doi: 10.1210/clinem/dgab432. PMID: 34139759Free PMC Article

Diagnosis

Zheng Z, Wu Y, Wu H, Jin J, Luo Y, Cao S, Shan X
J Pediatr Endocrinol Metab 2023 Nov 27;36(11):999-1011. Epub 2023 Sep 29 doi: 10.1515/jpem-2023-0147. PMID: 37768904
Gorvin CM
Pediatr Nephrol 2022 Feb;37(2):289-301. Epub 2021 May 14 doi: 10.1007/s00467-021-05082-z. PMID: 33990852Free PMC Article
Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, Levine MA, Sochett E
J Clin Endocrinol Metab 2021 Sep 27;106(10):2938-2948. doi: 10.1210/clinem/dgab432. PMID: 34139759Free PMC Article
Kowalska E, Rola R, Wójcik M, Łaszcz N, Płudowski P, Wierzbicka A, Janiec A, Książyk J, Halat P, Ciara E, Obrycki Ł, Pronicka E, Litwin M
J Steroid Biochem Mol Biol 2021 Apr;208:105824. Epub 2021 Jan 28 doi: 10.1016/j.jsbmb.2021.105824. PMID: 33516786
Mirea AM, Pop RM, Căinap SS, Trifa AP
Eur J Med Genet 2020 Dec;63(12):104100. Epub 2020 Nov 10 doi: 10.1016/j.ejmg.2020.104100. PMID: 33186763

Therapy

Zheng Z, Wu Y, Wu H, Jin J, Luo Y, Cao S, Shan X
J Pediatr Endocrinol Metab 2023 Nov 27;36(11):999-1011. Epub 2023 Sep 29 doi: 10.1515/jpem-2023-0147. PMID: 37768904
Lenherr-Taube N, Furman M, Assor E, Thummel K, Levine MA, Sochett E
J Steroid Biochem Mol Biol 2023 Jul;231:106301. Epub 2023 Mar 27 doi: 10.1016/j.jsbmb.2023.106301. PMID: 36990163Free PMC Article
Ozer Bekmez B, Oguz SS
Clin Nutr 2022 Feb;41(2):415-423. Epub 2021 Dec 10 doi: 10.1016/j.clnu.2021.12.011. PMID: 35007810
Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, Levine MA, Sochett E
J Clin Endocrinol Metab 2021 Sep 27;106(10):2938-2948. doi: 10.1210/clinem/dgab432. PMID: 34139759Free PMC Article
Kowalska E, Rola R, Wójcik M, Łaszcz N, Płudowski P, Wierzbicka A, Janiec A, Książyk J, Halat P, Ciara E, Obrycki Ł, Pronicka E, Litwin M
J Steroid Biochem Mol Biol 2021 Apr;208:105824. Epub 2021 Jan 28 doi: 10.1016/j.jsbmb.2021.105824. PMID: 33516786

Prognosis

Ozer Bekmez B, Oguz SS
Clin Nutr 2022 Feb;41(2):415-423. Epub 2021 Dec 10 doi: 10.1016/j.clnu.2021.12.011. PMID: 35007810
Hureaux M, Molin A, Jay N, Saliou AH, Spaggiari E, Salomon R, Benachi A, Vargas-Poussou R, Heidet L
Pediatr Nephrol 2018 Oct;33(10):1723-1729. Epub 2018 Jun 29 doi: 10.1007/s00467-018-3998-z. PMID: 29959532
STEWART WK, MITCHELL RG, MORGAN HG, LOWE KG, THOMSON J
Lancet 1964 Mar 28;1(7335):679-82. doi: 10.1016/s0140-6736(64)91516-8. PMID: 14107954

Clinical prediction guides

Ball N, Duncan S, Zhang Y, Payet R, Piec I, Whittle E, Tang JCY, Schoenmakers I, Lopez B, Chipchase A, Kumar A, Perry L, Maxwell H, Ding Y, Fraser WD, Green D
J Bone Miner Res 2023 Mar;38(3):414-426. Epub 2023 Jan 23 doi: 10.1002/jbmr.4769. PMID: 36625425
Ozer Bekmez B, Oguz SS
Clin Nutr 2022 Feb;41(2):415-423. Epub 2021 Dec 10 doi: 10.1016/j.clnu.2021.12.011. PMID: 35007810
Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, Levine MA, Sochett E
J Clin Endocrinol Metab 2021 Sep 27;106(10):2938-2948. doi: 10.1210/clinem/dgab432. PMID: 34139759Free PMC Article
Mutsaers HA, Levtchenko EN, Martinerie L, Pertijs JC, Allegaert K, Devriendt K, Masereeuw R, Monnens LA, Lombès M
J Clin Endocrinol Metab 2014 Jul;99(7):E1361-7. Epub 2014 Mar 26 doi: 10.1210/jc.2014-1123. PMID: 24670087Free PMC Article

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