İki Psödohipoaldosteronizm Olgusu

Year 2014, Volume: 12 Issue: 3, 183 - 186, 01.12.2014

Hüseyin Anıl Korkmaz Ceyhun Dizdarer Melek Yıldız Ferah Genel Behzat Özkan

https://doi.org/10.4274/jcp.66376

Abstract

Psödohipoaldosteronizm tip 1 PHA1 , aldosterona periferik direnç sonucu gelişen ve tuz kaybı ile karakterize olan bir hastalıktır. PHA1 tipik laboratuvar bulguları, hiponatremi, hiperkalemi, metabolik asidoz ve yüksek serum aldosteron düzeyleridir. PHA1’in semptomları 21-hidroksilaz veya 3-beta-hidroksisteroid dehidrogenaz eksikliğinin neden olduğu konjenital adrenal hiperplazi ve aldosteron eksikliğinden kaynaklanan hipoaldosteronizmin semptomları ile kolayca karışmaktadır. Klinik bulguları ve kalıtım tipine göre; PHA1, renal PHA1 otozomal dominant ve daha ağır kliniği olan sistemik PHA1 otozomal resesif olarak iki grupta sınıflandırılır. Bu çalışmada kusma ve ishal yakınmaları ile başvuran ve tipik laboratuvar bulguları ile PHA1 tanısı konan iki olgu sunulmuştur. Bu iki olgu da kusma, ishal, huzursuzluk ve dehidratasyon ile başvurmuştu. Tuz kaybettiren konjenital adrenal hiperplazi nedenleri ekarte edildikten sonra, plazma renin aktivitesi ve serum aldosteron düzeylerinin yüksek saptanması ile PHA tanısı kondu

Keywords

Psödohipoaldosteronizm, tuz kaybı, çocuk

Two Cases with Pseudohypoaldosteronism

Abstract

Pseudohypoaldosteronism type 1 PHA1 is characterized by salt loss which is due to peripheral resistance to aldosterone. Common clinical manifestations of PHA1 include hyponatremia, hyperkalemia, metabolic acidosis and elevated plasma aldosterone levels. The symptoms of PHA1 are easily confused with the symptoms of congenital adrenal hyperplasia associated with 21-hydroxylase deficiency or 3-beta-hydroxysteroid dehydrogenase deficiency; and the symptoms of hypoaldosteronism due to aldosterone deficiency. According to the clinical manifestations and Mendelian inheritance patterns, PHA1 can be classified as either renal PHA1 autosomal dominant or the more severe systemic PHA1 autosomal recessive . Herein, we presented two children with PHA1. Two children presented with vomiting, diarrhea, restlessness and dehydratation. After eliminating salt-losing congenital adrenal hyperplasia, PHA was diagnosed with high plasma renin activity and aldosterone

Keywords

Pseudohypoaldosteronism, salt wasting, child

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