Serap SEMİZ, Abdullah KARACA, Kazım KÜÇÜKTAŞÇI

Psödohipoaldosteronizm: Olgu sunumu

Giriş: Psödohipoaldosteronizm, aldosterona periferik direnç sonucu gelişen ve tuz kaybı ile karakterize bir hastalıktır. Olgu Sunumu: Emmede azalma, emerken uyuklama şikayetiyle getirilen hastada hiponatremi, hiperkalemi, metabolik asidoz, yüksek renin ve aldosteron düzeyi saptandı. Olguya sistemik 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 enfeksiyonlarından kaynaklanır. 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.

Pseudohypoaldosteronism: Case repor

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 getting sleepy 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 usuallly normal, and plasma renin activity is depressed, there is an adequate response to mineralocorticoids. Probability of secondary pseudohypoaldosteronism was investigated at the same time because of the urinary infection present in our subject. The patient was accepted as systemic form of primary pseudohypoaldosteronism because of positive sweat test result and prolonged salt necessity.

PDF

___

1. Belot A, Ranchin B, Fichtner C, Pujo L, Rossier BC, Liutkus A, et al. Pseudohypoaldosteronisms, report on a 10-patient series. Nephrol Dial Transplant 2008; 23:1636-41.
2. Bonny O, Rossier BC. Disturbances of Na/K balance: pseudohypoaldosteronism revisited. J Am Soc Nephrol 2002; 13:2399-414.
3. Nyström AM, Bondeson ML, Skanke N, Mårtensson J, Strömberg B, Gustafsson J et al. A Novel Nonsense Mutation of the Mineralocorticoid Receptor Gene in a Swedish Family with Pseudohypoaldosteronism Type I (PHA1). J Clin Endocrinol Metab 2004; 89:227-31.
4. Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M et al. Novel mutations in epithelial sodium channel (eNaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Clin Endocrinol 2005; 62:547-53.
5. Gormley K, Dong Y, Sagnella GA. Regulation of the epithelial sodium channel by accessory proteins. Biochem J 2003; 371:1-14.
6. Kerem E, Bistritzer T, Hanukoglu A, Hofmann T, Zhou Z, Bennett W, et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 1999; 341:156-62.
7. Malagon-Rogers M. A patient with pseudohypoaldosteronism type 1 and respiratory distress syndrome. Pediatr Nephrol 1999; 13:484-6.
8. Akçay A, Yavuz T, Semiz S, Bundak R, Demirdöven M. Pseudohypoaldosteronism type 1 and respiratory distress syndrome. J Pediatr Endocrinol Metab 2002; 15:1557-61.
9. Balsamo A, Cicognani A, Gennari M, Sippell WG, Menabo S, Baronio F, et al. Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. Eur J Endocrinology 2007; 156:249-56.
10. Pujo L, Fagart J, Gary F, Papadimitriou DT, Claës A, Jeunemâtre X et al. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat 2007; 28:33-40.
11. Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, et al. Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet 2003; 112:91-7.
12. Disse-Nicodeme S, Desitter I, Fiquet-Kempf B, Houot AM, Stern N, Delahousse M et al. Genetic heterogeneity of familial hyperkalaemic hypertension. J Hypertens 2001; 19:1957-64.
13. Disse-Nicodeme S, Achard JM, Desitter I, Houot AM, Fournier A, Corvol P et al. A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. Am J Hum Genet 2000; 67:302-10.
14. Proctor G, Linas S. Type 2 pseudohypoaldosteronism: new insights into renal potassium, sodium, and chloride handling. Am J Kidney Dis 2006; 48: 674-93.