Pseudohypoaldosteronism: Case Report

Abstract

Introduction: Pseudohypoaldosteronism is a disease which occurs as a result of peripheral resistance to aldosterone and is characterised by salt wasting. Case Report: Hyponatremia, hyperkalemia, metabolic acidosis, high renin and aldosterone levels were determined in the patient admitted with decrease in sucking and gettingsleepy during breast-feeding. The case was diagnosed as systemic form of pseudohypoaldosteronism. His treatment was continued with oral salt.Conclusion: Pseudohypoaldosteronism has three types as primary, secondary and Gordon syndrome. Primary form is due to epithelial sodium channel and mineralocorticoid receptor gene mutation, whilst secondary form is frequently caused by urinary malformation and urinary tract infections. In Gordon syndrome, plasma aldosterone level is usualllynormal, and plasma renin activity is depressed, there is an adequate response to mineralocorticoids. Probability of secondary pseudohypoaldosteronism was investigated at thesame time because of the urinary infection present in our subject. The patient was accepted as systemic form of primary pseudohypoaldosteronism because of positive sweat testresult and prolonged salt necessity

Keywords

• Pseudohypoaldosteronism

Psödohipoaldosteronizm: Olgu Sunumu

Öz

Giriş: Psödohipoaldosteronizm, aldosterona periferik direnç sonucu gelişen ve tuz kaybıile karakterize bir hastalıktır. Olgu Sunumu: Emmede azalma, emerken uyuklama şikayetiyle getirilen hastada hiponatremi, hiperkalemi, metabolik asidoz, yüksek renin ve aldosteron düzeyi saptandı. Olguyasistemik form psödohipoaldosteronizm tanısı konuldu. Oral tuz ile tedavisine devam edildi.Tartışma: Psödohipoaldosteronizm primer, sekonder ve Gordon sendromu olarak üç tiptir. Primer form epitelyal sodyum kanalı ve mineralokortikoid reseptör genindeki mutasyondan, sekonder form sıklıkla üriner malformasyon ve idrar yolu enfeksiyonlarındankaynaklanır. Gordon sendromunda ise plazma aldosteron düzeyi genellikle normal olup,mineralokortikoidlere yeterli cevap vardır ve plazma renin aktivitesi baskılanmıştır. Olgumuzda üriner enfeksiyon saptanması nedeniyle aynı zamanda sekonder psödohipoaldosteronizm olasılığı araştırıldı. Ter testinin pozitif olması ve tuz ihtiyacının uzun süre devam etmesi nedeniyle hasta sistemik form primer psödohipoaldosteronizm olarak kabul edildi

Anahtar Kelimeler

• Psödohipoaldosteronizm

Kaynakça

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