MON-366 X Linked Hypophosphatemic Rachitism: Case Report in Adult Patient
نویسندگان
چکیده
منابع مشابه
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 ...
متن کاملTertiary 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...
متن کاملCinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review.
X-linked dominant hypophosphatemic rickets (XLH) is the most prevalent genetic form of hypophosphatemic rickets. Standard treatment of XLH patients includes long-term administration of phosphate and calcitriol. Treated patients usually respond well to the conventional therapy and demonstrate amelioration of rachitic symptoms and improved growth. However, long-term administration of phosphate an...
متن کاملThree-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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Tetanus is a neurological disorder caused by Clostridium tetani. Although vaccination has significantly reduced the incidence of tetanus worldwide, the occurrence of sporadic cases requires effective and timely treatment. In this study, we report the case of a 45-year-old man who had difficulty in swallowing and opening mouth. The patient had the history of a small puncture wound with a nail in...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.1024