Familial hypocalciuric hypercalcemia: an atypical presentation.

نویسندگان

  • Matilde Bettina Mijares Zamuner
  • Evangelina Boix Carreño
  • Alicia López Maciá
  • Antonio Picó Alfonso
چکیده

9. Jammah AA, Driedger A, Rachinsky I. Incidental finding of ovarian teratoma on post-therapy scan for papillary thyroid cancer and impact of SPECT/CT imaging. Arq Bras Endocrinol Metab. 2011;55:490--3. 10. Van Wijk JPH, Broekhuizen-de Gast HS, Smits AJJ, Schipper MEI, Zelissen PMJ. Scintigraphic detection of benign ovarian teratoma after total thyroidectomy and radioactive iodine for differentiated thyroid cancer. J Clin Endocrinol Metab. 2012;97:1094--5. Jorge Rojo Álvaro , Emma Anda Apiñániz, Edelmiro Menéndez Torre, Ana Echegoyen Silanes, Juan Pablo Martínez De Esteban

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A novel mutation in the calcium-sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report

INTRODUCTION Familial hypocalciuric hypercalcemia is a rare autosomal dominant disorder characterized by asymptomatic and non-progressive hypercalcemia due to mutations of the calcium-sensing receptor gene. Disorders of calcium metabolism are very common in the elderly, and they can coexist with familial hypocalciuric hypercalcemia in affected families. CASE PRESENTATION We describe an Irish ...

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[Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation].

OBJECTIVES Biochemical tests related to calcium and phosphorus metabolism have traditionally been considered as a reliable tool to differentiate familial hypocalciuric hypercalcemia (FHH) from primary hyperparathyroidism (PHPT). However, diagnosis may sometimes be difficult even for experienced clinicians. Our objective was to assess the accuracy of diagnostic tests in FHH and the circumstances...

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Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series

INTRODUCTION Familial hypocalciuric hypercalcemia is a rare benign autosomal-dominant genetic disease with high penetrance. In most cases, patients with familial hypocalciuric hypercalcemia experience unspecific physical discomfort or asymptomatic disease. These patients are typically characterized by mild to moderately increased blood ionized calcium and a normal to slightly elevated serum par...

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Familial hypocalciuric hypercalcemia: An atypical presentation

9. Jammah AA, Driedger A, Rachinsky I. Incidental finding of ovarian teratoma on post-therapy scan for papillary thyroid cancer and impact of SPECT/CT imaging. Arq Bras Endocrinol Metab. 2011;55:490--3. 10. Van Wijk JPH, Broekhuizen-de Gast HS, Smits AJJ, Schipper MEI, Zelissen PMJ. Scintigraphic detection of benign ovarian teratoma after total thyroidectomy and radioactive iodine for different...

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Primary hyperparathyroidism in children and adolescents.

Primary hyperparathyroidism (PHPT) is a common endocrine disorder in adults in whom the typical presentation is incidentally discovered as asymptomatic hypercalcemia. PHPT is much less common in children and adolescents, but has greater morbidity in this age group, as most young patients with PHPT will have symptomatic hypercalcemia or complications such as kidney stones, abdominal pain, and sk...

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Marked hypercalcemia in a patient with hypocalciuric hypercalcemia without a mutation in the calcium-sensing receptor gene.

A 60-year-old man was admitted to our hospital with marked hypercalcemia. He had no symptoms that might be caused by hypercalcemia. Plasma concentrations of calcium and intact parathyroid hormone were 15.2 mg/dl and 103 pg/ml, respectively. Radiological examinations revealed no abnormal findings. His calcium-creatinine clearance ratio was calculated to be 0.004, thus he was diagnosed as having ...

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عنوان ژورنال:
  • Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion

دوره 60 5  شماره 

صفحات  -

تاریخ انتشار 2013