Hypercalcemia in an Infant With Pseudohypoaldosteronism Type 1
نویسندگان
چکیده
منابع مشابه
Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy
Type 1 pseudohypoaldosteronism (PHA1) is a salt wasting syndrome caused by renal resistance to aldosterone. Primary renal PHA1 or autosomal dominant PHA1 is caused by mutations in mineralocorticoids receptor gene (NR3C2), while secondary PHA1 is frequently associated with urinary tract infection (UTI) and/or urinary tract malformations (UTM). We report a 14-day-old male infant presenting with s...
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Severe neonatal primary hyperparathyroidism is a very rare type of primary hyperparathyroidism in pediatrics that might present during infancy with non-specific symptoms. We report an infant who presented with a very high level of calcium, yet responding to simple medications to draw the attention to pediatricians to this disease as early diagnosis and treatment will ameliorate its devastating ...
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normal 0 false false false en-us x-none ar-sa microsoftinternetexplorer4 background : pseudohypoaldosteronism type 1 (pha1) is a rare congenital disease of mineralocorticoid resistance which characterized by neonatal renal salt wasting, vomiting, dehydration and failure to thrive. the clinical presentation of the disease represented mostly during neonatal period with a wide spectrum of symptoms...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2021
ISSN: 2472-1972
DOI: 10.1210/jendso/bvab048.271