A rare cause of hypercalcemia presenting with high parathormone levels: Familial hypocalciuric hypercalcemia

Year 2013, Volume: 38 Issue: 4, 765 - 769, 01.12.2013

Okan Bakıner Emre Bozkırlı

Abstract

Familial Hypocalciuric Hypercalcemia is a generally benign disorder caused by heterozygous inactivating mutations in the Calcium-Sensing-Receptor gene resulting in altered calcium metabolism. It should be considered in differential diagnosis of primary hyperparathyroidism. Our case whom was diagnosed as toxic nodular goitre and primary hyperparathyroidism and suggested surgical treatment in another clinical center was evaluated in our out-patient clinic. Furosemid treatment which may affect calcium metabolism was stopped and medical therapy for hyperthyroidism was given. During follow-up the patient was considered as familial hypocalciuric hypercalcemia because of mild hypercalcemia, borderline elevated parathormone levels and significantly decreased daily urinary calcium excretion. The diagnosis was confirmed with the determination of similar laboratory findings for calcium metabolism in her children. In conclusion, evaluating the calcium metabolism after correcting the other factors and keeping familial hypocalciuric hypercalcemia in mind while diagnostic approach to hypercalcemia and differentially diagnosis of primary hyperparathyroidism may prevent unnecessary surgery.

Keywords

Familial Hypocalciuric Hypercalcemia, Hypercalcemia, Primary Hyperparathyroidism

Parathormon yüksekliği ile seyreden nadir bir hiperkalsemi sebebi: Ailesel hipokalsiürik hiperkalsemi

Abstract

Ailesel hipokalsiürik hiperkalsemi, kalsiyum duyarlı reseptörleri kodlayan gende inaktive edici heterozigot mutasyonlar nedeniyle oluşan, kalsiyum metabolizmasını etkileyen ve genellikle benign seyreden kalıtımsal bir hastalıktır. Primer hiperparatiroidinin ayırıcı tanısında mutlaka düşünülmelidir. Dış merkezde toksik nodüler guatr ve primer hiperparatiroidi tanılarıyla cerrahi kararı alınan olgumuzun kliniğimizce yapılan değerlendirmesinde kalsiyum metabolizmasını etkileyebilecek furosemid alımı kesildi ve hipertiroidisi düzeltildi. Tekrar değerlendirmede ılımlı hiperkalsemi, sınırda yüksek parathormon düzeyleri ve idrarla günlük kalsiyum atılımının belirgin düşüklüğü nedeniyle ailesel hipokalsiürik hiperkalsemi olabileceği düşünüldü. Çocuklarında kalsiyum metabolizmasında benzer laboratuvar bulguları saptanması üzerine tanı doğrulandı. Kalsiyum metabolizmasını, etkilenebileceği diğer faktörleri düzelttikten sonra değerlendirmek klinisyenleri sıklıkla yanlış tanıdan uzaklaştıracaktır. Hiperkalsemiye tanısal yaklaşımda ve primer hiperparatiroidi ayırıcı tanısında ailesel hipokalsiürik hiperkalsemiyi akılda tutmak gereksiz cerrahinin önüne geçecektir.

Keywords

Ailesel Hipokalsiürik Hiperkalsemi, Hiperkalsemi, Primer Hiperparatiroidi

References

• Shane E. Hypercalcemia: pathogenesis, clinical manifestations, differential diagnosis, and management. In: Favus MJ, ed. Primer on the metabolic bone diseases and disorders of mineral metabolism. 4th ed. Philadelphia, Lippincott, Williams & Wilkins. 1999:183–7
• Carroll MF, Schade DS .A practical approach to hypercalcemia. Am Fam Physician. 2003;67:1959-66. Endres DB. Investigation of hypercalcemia. Clin Biochem. 2012; 45:954-63.
• Foley TP Jr, Harrison HC, Arnaud CD, Harrison HE: Familial benign hypercalcemia. J Pediatr. 1972; 81:1060-7
• Brown EM. Clinical lessons from the calcium-sensing receptor. Nat Clin Pract Endocrinol Metab. 2007; 3:122–33.
• Schwarz P, Sorensen HA, Transbol I. Inter-relations between the calcium set-points of Parfitt and Brown in primary hyperparathyroidism: a sequential citrate and calcium clamp study. Eur J Clin Invest. 1994;24:553-8.
• Pidasheva S, D’Souza-Li L, Canaff L, Cole DE, Hendy GN. CASRdb: calcium sensing receptor locusspecific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat. 2004; 24:107–
• Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B et al. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell. 1993; 75:1297–1303.
• Brown EM. Editorial: mutant extracellular calciumsensing receptors and severity of disease. J Clin Endocrinol Metab. 2005; 90:1246–8.
• Christensen SE, Nissen PH, Vestergaard P, Mosekilde L. Familial hypocalciuric hypercalcaemia: a review. Curr Opin Endocrinol Diabetes Obes. 2011;18:359-70
• Auwerx J, Brunzell J, Bouillon R, Demedts M. Familial hypocalciuric hypercalcaemia--familial benign hypercalcaemia: a review. Postgrad Med J. 1987;63:835-40.
• Mosekilde L, Eriksen EF, Charles P.Effects of thyroid hormones on bone and mineral metabolism. Endocrinol Metab Clin North Am. 1990;19(1):35-63
• Ruppe MD.Medications that affect calcium. Endocr Pract. 2011;17:26-30
• Watanabe H, Sutton RA.Renal calcium handling in familial hypocalciuric hypercalcemia. Kidney Int. 1983;24:353-7.
• Cakal E, Cakir E, Dilli A, Colak N, Unsal I, Aslan MS et al. Parathyroid adenoma screening efficacies of different imaging tools and factors affecting the success rates. Clin Imaging. 2012;36:688-94.
• Chandramohan A, Sathyakumar K, Irodi A, Abraham D, Paul MJ.Causes of discordant or negative ultrasound of parathyroid glands in treatment naïve patients with primary hyperparathyroidism. Eur J Radiol 2012;81(12):3956-64
• Yazışma Adresi / Address for Correspondence: Dr. Emre Bozkırlı Başkent Üniversitesi Tıp Fakültesi, Adana Uygulama ve Araştırma Hastanesi Endokrinoloji ve Metabolizma Hastalıkları Bilim Dalı ADANA e-mail: [e-mail] geliş tarihi/received :15.02.2013 kabul tarihi/accepted:21.03.2013