Parathyroidectomy for Tertiary Hyperparathyroidism Associated With X-linked Dominant Hypophosphatemic Rickets

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منابع مشابه

Parathyroidectomy for tertiary hyperparathyroidism associated with X-linked dominant hypophosphatemic rickets.

BACKGROUND X-linked dominant hypophosphatemic rickets (XLHR) is a hereditary metabolic bone syndrome that is only beginning to be understood and is rarely associated with progression to irreversible tertiary hyperparathyroidism. We report our surgical experience with 6 patients with XLHR who underwent parathyroidectomy for associated autonomous parathyroid hyperfunction. HYPOTHESIS Parathyroi...

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Tertiary hyperparathyroidism in a patient with X-linked hypophosphatemic rickets.

A 29-year-old female (Weight=50 kg, Height=152 cm, Body Mass Index= 21.6 Kg/m, target height: 151.5 cm) with symptomatic XLHR (X-linked Hypophosphatemic Rickets) since childhood was referred for evaluation of hypercalcemia. At the age of three years, during evaluation for growth retardation and features of rickets along with hypophosphatemia, she received the diagnosis of XLHR. Family history w...

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Tertiary hyperparathyroidism during high phosphate therapy of familial hypophosphatemic rickets.

We report the development of severe tertiary hyperparathyroidism in three girls treated for familial hypophosphatemic rickets and characterize parathyroid function in vivo and in vitro. All patients had been previously treated with relatively large doses of inorganic phosphorus (125 mm/day) and ergocalciferol or calcitriol for several years and had radiographic evidence of long-standing hyperpa...

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Three-Year Successful Cinacalcet Treatment of Secondary Hyperparathyroidism in a Patient with X-Linked Dominant Hypophosphatemic Rickets: A Case Report

Hypophosphatemic rickets (HR) is a rare inherited disorder characterized by a classic rickets phenotype with low plasma phosphate levels and resistance to treatment with vitamin D. Development of secondary hyperparathyroidism (SHPT) as a direct consequence of treatment is a frequent complication and a major clinical challenge, as this may increase risk of further comorbidity. Cinacalcet, a calc...

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X-linked hypophosphatemic rickets: case report.

INTRODUCTION X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation. We present a girl with X-linked hypophosphatemic rickets (XLHR) as a consequence of de novo mutation in the PHEX gene. CASE OUTLINE A 2.2-year-old girl presented with prominent lower limb rachitic deformity, waddling gait and ...

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ژورنال

عنوان ژورنال: Archives of Surgery

سال: 2004

ISSN: 0004-0010

DOI: 10.1001/archsurg.139.2.218