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

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.

Anahtar Kelimeler:

Ailesel Hipokalsiürik Hiperkalsemi, Hiperkalsemi, Primer Hiperparatiroidi

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

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,

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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: emrebozk@yahoo.com geliş tarihi/received :15.02.2013 kabul tarihi/accepted:21.03.2013