Öz
Ciddi çocukluk çağı hiperkalsemisi, düzeltilmediği takdirde koma ve ölümle sonuçlanabilen ciddi bir bulgudur. Öte yandan etiyoloji ve tedavi yaklaşımları yaşa göre değişkenlik göstermektedir. Bu nedenle tanının doğru ve ivedilikle konulması önem arz eder. Ciddi çocukluk çağı hiperkalsemisi, düzeltilmediği takdirde koma ve ölümle sonuçlanabilen ciddi bir bulgudur. Öte yandan etiyoloji ve tedavi yaklaşımları yaşa göre değişkenlik göstermektedir. Bu nedenle tanının doğru ve ivedilikle konulması önem arz eder. Bu yazıda, hiperkalsemi saptanan üç farklı olguda tanı ve tedavi yaklaşımlarının literatür eşliğinde sunulması uygun görülmüştür.
Anahtar Kelimeler
Destekleyen Kurum
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Proje Numarası
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Teşekkür
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Kaynakça
- Sadiq NM, Naganathan S, Badireddy M. Hypercalcemia. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan.
- Stokes VJ, Nielsen MF, Hannan FM, et al. Hypercalcemic disorder in children. J Bone Miner Res 2017; 32: 2157-70.
- Hochberg Z. Practical Algorithms in Pediaric Endocrinology. 3rd ed. Haifa: Karger: 2017. pp 68-9.
- Riccardi D, Brown EM. Physiology and pathophysiology of the calcium-sensing receptor in the kidney. Am J Physiol Renal Physiol 2010; 298: F485-99.
- Shah VN, Chagot B, Chazin WJ. Calcium-dependent regulation of ion channels. calcium bind proteins 2006; 1: 203-12
- Egbuna OI, Brown EM. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol 2008; 22: 129-48.
- Diaz-Soto G, Rocher A, Garcia-Rodriguez C, et all. The calcium sensing receptor in health and disease. Int Rev Cell Mol Biol 2016; 327: 321-69.
- Dutta A, Pal R, Jain N, et al. Pediatric parathyroid carcinoma: a case report and review of literature. J Endocr Soc 2019; 3: 2224-35.
- Hirai T, Nakashima A, Takasugi N, et al. Association of nodular hyperplasia with resistance to cinacalcet therapy for secondary hyperparathyroidism in hemodialysis patients. Ther Apher Dial 2010; 14: 577-82.
- Davies JH. Approach to the child with hypercalcemia. Endocr Dev. Basel, Karger, 2015, vol 28, pp 101-118
- Benaderet AD, Burton AM, Clifton-Bligh R, et al. Primary hyperparathyroidism with low intact PTH levels in a 14-year-old girl. J Clin Endocrinol Metab 2011; 96: 2325-9.
- Roizen J, Levine MA. Primary hyperparathyroidism in children and adolescents. J Chin Med Assoc 2012; 75: 425-34.
- Caldwell L, Vora A, Oo Y. Role of genetic screening for FHH in a patient with hypercalcemia and hyperparathyroidism. J Endocr Soc 2019; 3: SAT-504.
- Tosur M, Lopez ME, Paul DL. Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female. Ann Pediatr Endocrinol Metab 2019; 24: 195-8.
- Lee JY, Shoback SM. Familial hypocalciuric hypercalcemia and related disorders. Best Pract Res Clin Endocrinol Metab 2018; 32: 609-19.
- Taki K, Kogai T, Sakumoto J, et al. Familial hypocalciuric hypercalcemia with a de novo mutation of calcium-sensing receptor. Endocrinol Diabetes Metab Case Rep 2015; 2015: 150016.
- Nesbit MA, Hannan FM, Howles SA, et al. Mutation affecting G-protein subunit a11 in hypercalcemia and hypocalcemia. N Engl J Med 2013 Jun 27; 368(26): 2476-86.
- Vahe C, Benomar K, Espiard S, et al. Diseases associated with calcium sensing receptor. Orphanet J Rare Dis 2017; 12: 19.
- Stratta P, Merlotti G, Musetti C, et al. Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel ınactivating mutations in an Italian population. Nephrol Dial Transplant 2014; 29: 1902-9.
- Lopez CA, Anton-Martin P, Gil-Fornuer B, et al. Familial hypocalciuric hypercalcemia: new mutation in the CASR Gene converting Valine 697 to Methionine. Eur J Pediatr 2012; 171: 147-50.
- Szalat A, Shpitzen S, Tsur A, et al. Stepwise CaSR, Ap2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. Endocrine 2017; 55: 741-7.
- Alon US, VanDeVoorde RG. Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. Pediatr Nephrol 2010; 25: 1747-50.
- Marx SJ. Calcimimetic use in familial hpyocalciuric hypercalcemia- a perspective in endocrinology. J Clin Endocrinol Metab 2017; 102: 3933-6.
Öz
Severe childhood hypercalcemia appears as a serious finding that can result in coma and death if not corrected. On the other hand, etiology and treatment approaches vary according to age. Therfore it is important to make the diagnosis correctly and promptly. In this article, it was deemed appropriate to present the diagnosis and treatment approaches in three cases with different diagnosis due to hypercalcemia in the light of the literature.
Severe childhood hypercalcemia appears as a serious finding that can result in coma and death if not corrected. On the other hand, etiology and treatment approaches vary according to age. Therfore it is important to make the diagnosis correctly and promptly. In this article, it was deemed appropriate to present the diagnosis and treatment approaches in three cases with different diagnosis due to hypercalcemia in the light of the literature.
Anahtar Kelimeler
Proje Numarası
-
Kaynakça
- Sadiq NM, Naganathan S, Badireddy M. Hypercalcemia. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan.
- Stokes VJ, Nielsen MF, Hannan FM, et al. Hypercalcemic disorder in children. J Bone Miner Res 2017; 32: 2157-70.
- Hochberg Z. Practical Algorithms in Pediaric Endocrinology. 3rd ed. Haifa: Karger: 2017. pp 68-9.
- Riccardi D, Brown EM. Physiology and pathophysiology of the calcium-sensing receptor in the kidney. Am J Physiol Renal Physiol 2010; 298: F485-99.
- Shah VN, Chagot B, Chazin WJ. Calcium-dependent regulation of ion channels. calcium bind proteins 2006; 1: 203-12
- Egbuna OI, Brown EM. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol 2008; 22: 129-48.
- Diaz-Soto G, Rocher A, Garcia-Rodriguez C, et all. The calcium sensing receptor in health and disease. Int Rev Cell Mol Biol 2016; 327: 321-69.
- Dutta A, Pal R, Jain N, et al. Pediatric parathyroid carcinoma: a case report and review of literature. J Endocr Soc 2019; 3: 2224-35.
- Hirai T, Nakashima A, Takasugi N, et al. Association of nodular hyperplasia with resistance to cinacalcet therapy for secondary hyperparathyroidism in hemodialysis patients. Ther Apher Dial 2010; 14: 577-82.
- Davies JH. Approach to the child with hypercalcemia. Endocr Dev. Basel, Karger, 2015, vol 28, pp 101-118
- Benaderet AD, Burton AM, Clifton-Bligh R, et al. Primary hyperparathyroidism with low intact PTH levels in a 14-year-old girl. J Clin Endocrinol Metab 2011; 96: 2325-9.
- Roizen J, Levine MA. Primary hyperparathyroidism in children and adolescents. J Chin Med Assoc 2012; 75: 425-34.
- Caldwell L, Vora A, Oo Y. Role of genetic screening for FHH in a patient with hypercalcemia and hyperparathyroidism. J Endocr Soc 2019; 3: SAT-504.
- Tosur M, Lopez ME, Paul DL. Primary hyperparathyroidism versus familial hypocalciuric hypercalcemia: a challenging diagnostic evaluation in an adolescent female. Ann Pediatr Endocrinol Metab 2019; 24: 195-8.
- Lee JY, Shoback SM. Familial hypocalciuric hypercalcemia and related disorders. Best Pract Res Clin Endocrinol Metab 2018; 32: 609-19.
- Taki K, Kogai T, Sakumoto J, et al. Familial hypocalciuric hypercalcemia with a de novo mutation of calcium-sensing receptor. Endocrinol Diabetes Metab Case Rep 2015; 2015: 150016.
- Nesbit MA, Hannan FM, Howles SA, et al. Mutation affecting G-protein subunit a11 in hypercalcemia and hypocalcemia. N Engl J Med 2013 Jun 27; 368(26): 2476-86.
- Vahe C, Benomar K, Espiard S, et al. Diseases associated with calcium sensing receptor. Orphanet J Rare Dis 2017; 12: 19.
- Stratta P, Merlotti G, Musetti C, et al. Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel ınactivating mutations in an Italian population. Nephrol Dial Transplant 2014; 29: 1902-9.
- Lopez CA, Anton-Martin P, Gil-Fornuer B, et al. Familial hypocalciuric hypercalcemia: new mutation in the CASR Gene converting Valine 697 to Methionine. Eur J Pediatr 2012; 171: 147-50.
- Szalat A, Shpitzen S, Tsur A, et al. Stepwise CaSR, Ap2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. Endocrine 2017; 55: 741-7.
- Alon US, VanDeVoorde RG. Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia. Pediatr Nephrol 2010; 25: 1747-50.
- Marx SJ. Calcimimetic use in familial hpyocalciuric hypercalcemia- a perspective in endocrinology. J Clin Endocrinol Metab 2017; 102: 3933-6.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Case Report [en] Olgu Sunumu [tr] |
| Yazarlar | |
| Proje Numarası | - |
| Yayımlanma Tarihi | 23 Mart 2021 |
| Yayımlandığı Sayı | Yıl 2021 Cilt: 2 Sayı: 1 |
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