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Our cases with familial hypocalciuric hypercalcemia

Yıl 2017, Cilt: 9 Sayı: 3, 137 - 140, 02.03.2017
https://doi.org/10.21601/ortadogutipdergisi.281914

Öz

Hypocalciuric
familial hypercalcemia is a benign disease caused by mutations in the calcium-sensitive
receptors, with modareta hypercalcemia and of calcium excretion in the urine leading
to less. Six patients was evaluated in our internal medicine policlinic with clinic
and biochemistyr parameters between 2010 January and 2015 June. Our cases were six
patients including four vomen between 21 and 86 old. We evaluated in our policinic
five cases childs and one cases parents. The results of evaluation of the patients
were thought to be familial hypocalciüric hypercalcemia because of moderate hypercalcemia,
borderline high parathormone levels and marked impairment of urinary calcium excretion.
The diagnosis was confirme exclusion of other causes of hypercalcemia and the childrens
of five patients and mother of one patients detected in calcium metabolism in
the laboratory findings are similar to.

Kaynakça

  • Bakıner O, Bozkırlı E. Parathormon yüksekliği ile seyreden nadir bir hiperkalsemi sebebi: Ailesel hipokalsiürik hiperkalsemi. Cukurova Medical Journal 2013;38(4): 765-769
  • Žofkovà I. Hypercalcemia. Pathophysiological aspects. Physiol Res. 2016 Mar 14;65 (1): 1-10
  • Endres DB. Investigation of hypercalcemia. Clin Biochem.2012 Aug;45(12):954-63
  • Akbaba G, Berker D. Hiperkalsemiye güncel yaklaşım. Endokrinolojide Diyalog 2010;7(4):149-155
  • Christensen SE, Nissen PH, Vestergaard P, Mosekilde L. Familial hypocalciuric hypercalcemia: a review. Curr Opin Endocrinol Diabetes Obes.2011 Dec;18(6):359-70
  • Nakayama T, Minato M, Nakagawa M, et al. A novel mutation in Ca²+-sensing receptor gene in Familial Hypocalciuric Hypercalcemia. Endocrine. 2001Aug;15(3): 277-82
  • Kim ES, Kim SY, Lee JY, et al. Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciüric hypercalcemia. J Bone Miner Metab. 2015 Sep 19
  • Pearce SH, Trump D, Wooding C, et al. Calcium- sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest.1995;96(6):2683-2692
  • Brown EM, Hebert SC. Calcium-receptor regulated parathyroid and renal function. Bone 1997;20: 303-309
  • Vargas-Poussou R, Huang C, Hulin P, et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol. 2002 Sep;13(9):2259-66
  • Yamaguchi T, Sugimoto T. Impaired bone mineralization in calcium-sensing receptor (CaSR) knockout mice: the physiological action of CaSR in bone microenvironments. Clin Calcium 2007 Oct;17(10):1567-73
  • Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Brixen K, Mosekilde L. Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a follow-up study on methods. Clin Endocrinol ( Oxf).2008 Nov; 69(5):713-20
  • Brown EM. Editorial: mutant extracellular calcium-sensing receptors and severity of disease. Clin Endocrinol Metab.2005;90:1246-8

Familyal hipokalsiürik hiperkalsemili olgularımız

Yıl 2017, Cilt: 9 Sayı: 3, 137 - 140, 02.03.2017
https://doi.org/10.21601/ortadogutipdergisi.281914

Öz


Ailesel hipokalsiürik hiperkalsemi,
ılımlı hiperkalsemi, idrarda kalsiyum atılımının az olması ile giden ve
kalsiyum duyarlı reseptörlerde mutasyonlardan kaynaklanan benign bir
hastalıktır. 2010 Ocak ile 2015 Haziran ayları arasında İç hastalıkları
polikliniğimize başvuran altı hasta klinik ve biyokimyasal paremetrelerle
değerlendirilmiştir. Olgularımız, 21 ile 86 yaş arasında, dördü kadın olmak
üzere toplam altı hasta idi. Beş olgumuzun çocukları ve bir olgumuzun
ebeveynleri poliklinik ortamında değerlendirildi. Olguların değerlendirmesinde
ılımlı hiperkalsemi, sınırda yüksek parathormon düzeyleri ve idrarla günlük
kalsiyum atılımının belirgin düşüklüğü nedeniyle ailesel hipokalsiürik hiperkalsemi
olabileceği düşünüldü. Beş erişkin hastanın çocuklarında ve bir genç hastamızın
da annesinde kalsiyum metabolizmasında benzer laboratuvar bulguları saptanması
ve hiperkalsemi yapan diğer nedenlerin dışlanması üzerine tanı doğrulandı.



 


Kaynakça

  • Bakıner O, Bozkırlı E. Parathormon yüksekliği ile seyreden nadir bir hiperkalsemi sebebi: Ailesel hipokalsiürik hiperkalsemi. Cukurova Medical Journal 2013;38(4): 765-769
  • Žofkovà I. Hypercalcemia. Pathophysiological aspects. Physiol Res. 2016 Mar 14;65 (1): 1-10
  • Endres DB. Investigation of hypercalcemia. Clin Biochem.2012 Aug;45(12):954-63
  • Akbaba G, Berker D. Hiperkalsemiye güncel yaklaşım. Endokrinolojide Diyalog 2010;7(4):149-155
  • Christensen SE, Nissen PH, Vestergaard P, Mosekilde L. Familial hypocalciuric hypercalcemia: a review. Curr Opin Endocrinol Diabetes Obes.2011 Dec;18(6):359-70
  • Nakayama T, Minato M, Nakagawa M, et al. A novel mutation in Ca²+-sensing receptor gene in Familial Hypocalciuric Hypercalcemia. Endocrine. 2001Aug;15(3): 277-82
  • Kim ES, Kim SY, Lee JY, et al. Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciüric hypercalcemia. J Bone Miner Metab. 2015 Sep 19
  • Pearce SH, Trump D, Wooding C, et al. Calcium- sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest.1995;96(6):2683-2692
  • Brown EM, Hebert SC. Calcium-receptor regulated parathyroid and renal function. Bone 1997;20: 303-309
  • Vargas-Poussou R, Huang C, Hulin P, et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol. 2002 Sep;13(9):2259-66
  • Yamaguchi T, Sugimoto T. Impaired bone mineralization in calcium-sensing receptor (CaSR) knockout mice: the physiological action of CaSR in bone microenvironments. Clin Calcium 2007 Oct;17(10):1567-73
  • Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Brixen K, Mosekilde L. Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a follow-up study on methods. Clin Endocrinol ( Oxf).2008 Nov; 69(5):713-20
  • Brown EM. Editorial: mutant extracellular calcium-sensing receptors and severity of disease. Clin Endocrinol Metab.2005;90:1246-8
Toplam 13 adet kaynakça vardır.

Ayrıntılar

Konular Sağlık Kurumları Yönetimi
Bölüm Vaka sunumu
Yazarlar

Muharrem Bayrak Bu kişi benim

Kenan Çadırcı

Ayşe Çarlıoğlu Çarlıoğlu

Hakan Sevimli Bu kişi benim

Şenay Durmaz

Yayımlanma Tarihi 2 Mart 2017
Yayımlandığı Sayı Yıl 2017 Cilt: 9 Sayı: 3

Kaynak Göster

Vancouver Bayrak M, Çadırcı K, Çarlıoğlu AÇ, Sevimli H, Durmaz Ş. Familyal hipokalsiürik hiperkalsemili olgularımız. otd. 2017;9(3):137-40.

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