Ceyhun DİZDARER, Melek YILDIZ, Ferah GENEL, Behzat ÖZKAN, Hüseyin Anıl KORKMAZ

İki Psödohipoaldosteronizm Olgusu

Psödohipoaldosteronizm tip 1 (PHA1), aldosterona periferik direnç sonucugelişen ve tuz kaybı ile karakterize olan bir hastalıktır. PHA1 tipik laboratuvarbulguları, hiponatremi, hiperkalemi, metabolik asidoz ve yüksek serum aldosterondüzeyleridir. PHA1in semptomları 21-hidroksilaz veya 3-beta-hidroksisteroiddehidrogenaz eksikliğinin neden olduğu konjenital adrenal hiperplazi vealdosteron eksikliğinden kaynaklanan hipoaldosteronizmin semptomları ilekolayca 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 ilebaşvuran ve tipik laboratuvar bulguları ile PHA1 tanısı konan iki olgu sunulmuştur.Bu iki olgu da kusma, ishal, huzursuzluk ve dehidratasyon ile başvurmuştu. Tuzkaybettiren konjenital adrenal hiperplazi nedenleri ekarte edildikten sonra, plazmarenin aktivitesi ve serum aldosteron düzeylerinin yüksek saptanması ile PHA tanısıkondu.

Two Cases with Pseudohypoaldosteronism

Pseudohypoaldosteronism type 1 (PHA1) is characterized by salt loss which isdue to peripheral resistance to aldosterone. Common clinical manifestations ofPHA1 include hyponatremia, hyperkalemia, metabolic acidosis and elevatedplasma aldosterone levels. The symptoms of PHA1 are easily confused withthe symptoms of congenital adrenal hyperplasia associated with 21-hydroxylasedeficiency or 3-beta-hydroxysteroid dehydrogenase deficiency; and the symptomsof hypoaldosteronism due to aldosterone deficiency. According to the clinicalmanifestations and Mendelian inheritance patterns, PHA1 can be classified aseither renal PHA1 (autosomal dominant) or the more severe systemic PHA1(autosomal recessive). Herein, we presented two children with PHA1. Twochildren presented with vomiting, diarrhea, restlessness and dehydratation. Aftereliminating salt-losing congenital adrenal hyperplasia, PHA was diagnosed withhigh plasma renin activity and aldosterone.

PDF

___

1. Zennaro MC, Lombes M. Mineralocorticoid resistance. Trends Endocrinol Metab 2004;15:264-70.
2. Riepe FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 2009;72:1-9.
3. Rodríguez-Soriano J, Vallo A, Oliveros R, Castillo G. Transient pseudohypoaldosteronism secondary to obstructive uropathy in infancy. J Pediatr 1983;103:375-80.
4. Heijden AJVD, Versteegh FGA, Wolff ED, Sukhai RN, Scholtmeijer RJ. Acute tubular dysfunction in infants with obstructive uropathy. Acta Paediatr Scand 1985;74:589-94.
5. Marra G, Goj V, Claris-Appiani A, DellAgnola CA, Tirelli SA, Tadini B, et al. Persistent tubular resistance to aldosterone in infants with congenital hydronephrosis corrected neonatally. J Pediatr 1987;110:868-72.
6. Vaid YN, Lebowitz RL. Urosepsis in infants with vesicoureteral reflux masquerading as the salt-losing type of congenital adrenal hyperplasia. Pediatr Radiol 1989;19:548-50.
7. Arai K, Chrousos GP. Syndromes of glucocorticoid and mineralocorticoid resistance. Steroids 1995; 60:173-9.
8. Zennaro MC, Lomb`es M. Mineralocorticoid resistance. Trends Endocrinol Metab 2004;15:264-70.
9. Levin TL, Abramson SJ, Burbige KA, Connor JP, Ruzal-Shapiro C, Berdon WE. Salt losing nephropathy simulating congenital adrenal hyperplasia in infants with obstructive uropathy and/ ör vesicoureteral reflux-values of ultrasonography in diagnosis. Pediatr Radiol 1991;21:413-5.
10. Bülchmann G, Schuster T, Heger A, Kuhnle U, Joppich I, Schmidt H. Transient pseudohypoaldosteronism secondary to posterior urethral valves-a case report and review of the literature. Eur J Pediatr Surg 2001;11:277-9.
11. Balcells C, Gili T, Perez J, Corripio R. Pseudohypoaldosteronism without nephropathy masking salt-wasting congenital adrenal hyperplasia genetically confirmed. BMJ Case Rep 2013;30;2013.
12. Ağladıoğlu SY, Aycan Z, Kendirci HN, Erkek N, Baş VN. Does pseudohypoaldosteronism mask the diagnosis of congenital adrenal hyperplasia? J Clin Res Pediatr Endocrinol 2011;3: 219-21.
13. 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 (Oxf) 2005;62:547-53.
14. Hanukoglu A. Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991;73:936-44.
15. Hanukoglu A, Joy O, Steinitz M, Rosler A, Hanukoglu I. Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone. J Steroid Biochem Mol Biol 1997;60:105-12.
16. Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, et al. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet 1998;19:279-81.
17. Akcakus M, Koklu E, Poyrazoglu H, Kurtoglu S. Newborn with pseudohypoaldosteronism and miliaria rubra. Int J Dermatol 2006;45:1432-4.
18. Onal H, Adal E, Ersen A, Onal Z, Keskindemirci G. Miliaria rubra and thrombocytosis in pseudohypoaldosteronism: case report. Platelets 2012;23:645-7.