این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Journal of Research in Medical Sciences، جلد ۱۷، شماره ۰۳، صفحات ۰-۰
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی A Case of pseudohypoaldosteronism type 1 with positive familial history
چکیده انگلیسی مقاله 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 regarding to autosomal recessive (systemic) or dominant (renal) inheritance mode. Biochemically, it is represented by high levels of plasma renin and aldosterone, hyponatremia and hyperkalemia. In this report, we present a case with clinical and biochemical findings of PHA1 and a positive familial history of the disease in her sister. CASE REPORT : A 3 months old girl infant was admitted to paediatrics emergency because of poor weight gain. At the time of admission, she was alert but dehydrated without history of vomiting or diarrhea for 1 week which had been deteriorated in last two days. RESULTS : Hyponatremia, hyperkalemia, metabolic acidosis and persistent electrolytes abnormalities were detected with dehydration in spite of adequate treatment, absence of hyperpigmentation, normal 17-OH-P values, high levels of plasma renin and aldosterone. No evidence of adrenal hyperplasia or renal anomalies was seen on ultrasonography. Acceptable response was achieved with high doses of fludrocortisone (0.5mg/day) and oral NaCl. These findings in addition to positive familial history led to the diagnosis of pseudohypoaldosteronism type 1. CONSLUSIONS : In any infant who presents with hyponatremia, hyperkalemia and metabolic acidosis and non-specific symptoms such as growth retardation, some rare diagnosis such as PHA1 should be considered. KEYWORDS : Pseudohypoaldosteronism Type 1, Hyponatremia, Hyperkalemia, Failure to Thrive, Familial
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله ندا مستوفی زاده | neda mostofizadeh
fellow of pediatric endocrinology, department of pediatrics, school of medicine and student research committee, isfahan university of medical sciences, isfahan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)

مهین هاشمی پور | mahin hashemipour
professor, endocrine and metabolism research center, child growth and development research center, isfahan university of medical sciences, isfahan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)

سیلوا هوسپیان | silva hovsepian
research assistant, child growth and development research center, endocrine and metabolism research center, isfahan university of medical sciences, isfahan, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (Isfahan university of medical sciences)

نشانی اینترنتی http://jrms.mui.ac.ir/index.php/jrms/article/view/8192
فایل مقاله فایلی برای مقاله ذخیره نشده است
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده Case Reports
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات