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Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy
المؤلفون المشاركون
Hickey, Scott E.
Nuthakki, Sushma
Cozzi, Corin
Thrush, Devon Lamb
Astbury, Caroline
Bowden, Sasigarn A.
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-12-19
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
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 severe hyperkalemia, hyponatremic dehydration, metabolic acidosis, and markedly elevated serum aldosterone level, initially thought to have secondary PHA1 due to the associated UTI and posterior urethral valves.
His serum aldosterone remained elevated at 5 months of age, despite resolution of salt wasting symptoms.
Chromosomal microarray analysis revealed a deletion of exons 3–5 in NR3C2 in the patient and his asymptomatic mother who also had elevated serum aldosterone level, confirming that he had primary or autosomal dominant PHA1.
Our case raises the possibility that some patients with secondary PHA1 attributed to UTI and/or UTM may instead have primary autosomal dominant PHA1, for which genetic testing should be considered to identify the cause, determine future recurrence risk, and possibly prevent the life-threatening salt wasting in a subsequent family member.
Future clinical research is needed to investigate the potential overlapping between secondary PHA1 and primary autosomal dominant PHA1.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Bowden, Sasigarn A.& Cozzi, Corin& Hickey, Scott E.& Thrush, Devon Lamb& Astbury, Caroline& Nuthakki, Sushma. 2013. Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy. Case Reports in Endocrinology،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-478557
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Bowden, Sasigarn A.…[et al.]. Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy. Case Reports in Endocrinology No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-478557
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Bowden, Sasigarn A.& Cozzi, Corin& Hickey, Scott E.& Thrush, Devon Lamb& Astbury, Caroline& Nuthakki, Sushma. Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy. Case Reports in Endocrinology. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-478557
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-478557
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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