|
|
1391/9/21، جلد ۲۲، شماره ۴، صفحات -
|
|
|
| عنوان فارسی |
|
|
| چکیده فارسی مقاله |
|
|
| کلیدواژه‌های فارسی مقاله |
|
|
| عنوان انگلیسی |
A Patient with Cystinosis Presenting Like Bartter Syndrome and Review of Literature |
|
| چکیده انگلیسی مقاله |
Background: Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and renal failure. Case Presentation: We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia. Her parents were 4 th degree relatives. Two relatives were diagnosed as end stage renal failure. She also had persistant hypokalemic hypochloremic metabolic alkalosis. Her renal function was normal at presentation. She was thought to have Bartter syndrome with supporting findings of elevated levels of renin and aldosterone with normal blood pressure, and hyperplasia of juxtaglomerular apparatus. Her metabolic alkalosis did not resolve despite supportive treatment. At 6 th month of follow-up proteinuria, glucosuria and deterioration of renal function developed. Diagnosis of cystinosis was made with slit lamp examination and leukocyte cystine levels. At 12 th month of follow-up her metabolic alkalosis has converted to metabolic acidosis. Conclusion: In children presenting with persistant metabolic alkalosis, with family history of renal failure, and parental consanguinity, cystinosis should always be kept in mind as this disease is an important cause of end stage renal failure which may have features mimmicking Bartter syndrome. Key Words: Nephropathic Cystinosis; Bartter Syndrome; Children; Metabolic Alkalosis |
|
| کلیدواژه‌های انگلیسی مقاله |
|
|
| نویسندگان مقاله |
11315---11316---11317---11318--- |
|
| نشانی اینترنتی |
http://ijp.tums.ac.ir/index.php/ijp/article/viewArticle/1900 |
| 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 Report |
|
|
|
برگشت به:
صفحه اول پایگاه |
نسخه مرتبط |
نشریه مرتبط |
فهرست نشریات
|
