A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene
Yıl: 2022 Cilt: 11 Sayı: 4 Sayfa Aralığı: 1731 - 1733 Metin Dili: İngilizce DOI: 10.5455/medscience.2022.08.193 İndeks Tarihi: 08-05-2023
A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene
Öz: Familial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The serum calcium level of a 9.2-year-old girl was 12.4mg/dl in incidental laboratory analysis. On the same occasion, the serum parathyroid hormone (PTH) level was 45 pg/ml, 25(OH) vitamin D level 24.2ng/ml, 1.25 dihydroxy vitamin D level 22pg/ml, and urinary Ca/creatinine ratio <0.01. The ultrasonographic evaluation of the urinary system was unremarkable. The clinical and laboratory findings pointed towards FHD. A heterozygous p.Cys575Tyr (c.1724G>A) variation was detected in the patient's CaSR gene, which was reported before, but no clinical manifestations were specified. In children with asymptomatic hypercalcemia, the diagnosis of FHH should be considered if the PTH level is normal or high and the urinary calcium is low.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
- 1. Marx SJ. Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology. J Clin Endocrinol Metab. 2017;102:3933- 3936.
- 2. Dershem R, Gorvin CM, Metpally RPR, et al. Regeneron Genetics Center. Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population. Am J Hum Genet. 2020;106:734-47.
- 3. Nesbit MA, Hannan FM, Howles SA, et al. Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013;368:2476-86.
- 4. Nesbit MA, Hannan FM, Howles SA, et al. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet. 2013;45:93-7.
- 5. Hannan FM, Howles SA, Rogers A, et al. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant- negative effects. Hum Mol Genet. 2015;24:5079-92.
- 6. Brown EM. Clinical lessons from the calcium-sensing receptor. Nat Clin Pract Endocrinol Metab. 2007;3:122-33.
- 7. Mayr B, Schnabel D, Dörr HG, Schöfl C. GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium- sensing receptor and associated proteins: current treatment concepts. Eur J Endocrinol. 2016;174:R189-208.
- 8. Lee JY, Shoback DM. Familial hypocalciuric hypercalcemia and related disorders. Best Pract Res Clin Endocrinol Metab. 2018;32:609-19.
- 9. Christensen SE, Nissen PH, Vestergaard P, et al. Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow- up study on methods. Clin Endocrinol (Oxf). 2008 Nov;69:713-20.
- 10. Kim ES, Kim SY, Lee JY, et al. Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia. J Bone Miner Metab. 2016 Nov;34:662-7.
- 11. Lee JY, Shoback DM. Familial hypocalciuric hypercalcemia and related disorders. Best Pract Res Clin Endocrinol Metab. 2018;32:609-19.
- 12. Marx SJ. Letter to the editor: Distinguishing typical primary hyperparathyroidism from familial hypocalciuric hypercalcemia by using an index of urinary calcium. J Clin Endocrinol Metab. 2015 Feb;100:L29-30.
- 13. Minisola S, Pepe J, Piemonte S, Cipriani C. The diagnosis and management of hypercalcaemia. BMJ. 2015;350:h2723.
- 14. Moore EC, Berber E, Jin J, Krishnamurthy V, Shin J, Siperstein A. Calcium-creatinine clearance ratio is not helpful in differentiating primary hyperparathyroidism from familial hypercalcemic Hypocalciuria: a study of 1,000 patients. Endocrine Practice. 2018;24:988-94.
- 15. Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV. The calcium- sensing receptor in physiology and in calcitropic and noncalcitropic diseases. Nat Rev Endocrinol. 2018;15:33-51.
| APA | Dundar I, çamtosun e, doğan m, KAYAŞ L, Çiftci N, Akinci A (2022). A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. , 1731 - 1733. 10.5455/medscience.2022.08.193 |
| Chicago | Dundar Ismail,çamtosun emine,doğan mustafa,KAYAŞ LEMAN,Çiftci Nurdan,Akinci Aysehan A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. (2022): 1731 - 1733. 10.5455/medscience.2022.08.193 |
| MLA | Dundar Ismail,çamtosun emine,doğan mustafa,KAYAŞ LEMAN,Çiftci Nurdan,Akinci Aysehan A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. , 2022, ss.1731 - 1733. 10.5455/medscience.2022.08.193 |
| AMA | Dundar I,çamtosun e,doğan m,KAYAŞ L,Çiftci N,Akinci A A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. . 2022; 1731 - 1733. 10.5455/medscience.2022.08.193 |
| Vancouver | Dundar I,çamtosun e,doğan m,KAYAŞ L,Çiftci N,Akinci A A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. . 2022; 1731 - 1733. 10.5455/medscience.2022.08.193 |
| IEEE | Dundar I,çamtosun e,doğan m,KAYAŞ L,Çiftci N,Akinci A "A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene." , ss.1731 - 1733, 2022. 10.5455/medscience.2022.08.193 |
| ISNAD | Dundar, Ismail vd. "A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene". (2022), 1731-1733. https://doi.org/10.5455/medscience.2022.08.193 |
| APA | Dundar I, çamtosun e, doğan m, KAYAŞ L, Çiftci N, Akinci A (2022). A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. Medicine Science, 11(4), 1731 - 1733. 10.5455/medscience.2022.08.193 |
| Chicago | Dundar Ismail,çamtosun emine,doğan mustafa,KAYAŞ LEMAN,Çiftci Nurdan,Akinci Aysehan A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. Medicine Science 11, no.4 (2022): 1731 - 1733. 10.5455/medscience.2022.08.193 |
| MLA | Dundar Ismail,çamtosun emine,doğan mustafa,KAYAŞ LEMAN,Çiftci Nurdan,Akinci Aysehan A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. Medicine Science, vol.11, no.4, 2022, ss.1731 - 1733. 10.5455/medscience.2022.08.193 |
| AMA | Dundar I,çamtosun e,doğan m,KAYAŞ L,Çiftci N,Akinci A A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. Medicine Science. 2022; 11(4): 1731 - 1733. 10.5455/medscience.2022.08.193 |
| Vancouver | Dundar I,çamtosun e,doğan m,KAYAŞ L,Çiftci N,Akinci A A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene. Medicine Science. 2022; 11(4): 1731 - 1733. 10.5455/medscience.2022.08.193 |
| IEEE | Dundar I,çamtosun e,doğan m,KAYAŞ L,Çiftci N,Akinci A "A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene." Medicine Science, 11, ss.1731 - 1733, 2022. 10.5455/medscience.2022.08.193 |
| ISNAD | Dundar, Ismail vd. "A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene". Medicine Science 11/4 (2022), 1731-1733. https://doi.org/10.5455/medscience.2022.08.193 |
