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İki Psödohipoaldosteronizm Olgusu

Yıl 2014, Cilt: 12 Sayı: 3, 183 - 186, 01.12.2014
https://doi.org/10.4274/jcp.66376

Öz

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

Kaynakça

  • 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, Dell’Agnola 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.

Two Cases with Pseudohypoaldosteronism

Yıl 2014, Cilt: 12 Sayı: 3, 183 - 186, 01.12.2014
https://doi.org/10.4274/jcp.66376

Öz

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

Kaynakça

  • 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, Dell’Agnola 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.
Toplam 18 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Bölüm Case Report
Yazarlar

Hüseyin Anıl Korkmaz Bu kişi benim

Ceyhun Dizdarer Bu kişi benim

Melek Yıldız Bu kişi benim

Ferah Genel Bu kişi benim

Behzat Özkan Bu kişi benim

Yayımlanma Tarihi 1 Aralık 2014
Yayımlandığı Sayı Yıl 2014 Cilt: 12 Sayı: 3

Kaynak Göster

APA Korkmaz, H. A., Dizdarer, C., Yıldız, M., Genel, F., vd. (2014). İki Psödohipoaldosteronizm Olgusu. Güncel Pediatri, 12(3), 183-186. https://doi.org/10.4274/jcp.66376
AMA Korkmaz HA, Dizdarer C, Yıldız M, Genel F, Özkan B. İki Psödohipoaldosteronizm Olgusu. Güncel Pediatri. Aralık 2014;12(3):183-186. doi:10.4274/jcp.66376
Chicago Korkmaz, Hüseyin Anıl, Ceyhun Dizdarer, Melek Yıldız, Ferah Genel, ve Behzat Özkan. “İki Psödohipoaldosteronizm Olgusu”. Güncel Pediatri 12, sy. 3 (Aralık 2014): 183-86. https://doi.org/10.4274/jcp.66376.
EndNote Korkmaz HA, Dizdarer C, Yıldız M, Genel F, Özkan B (01 Aralık 2014) İki Psödohipoaldosteronizm Olgusu. Güncel Pediatri 12 3 183–186.
IEEE H. A. Korkmaz, C. Dizdarer, M. Yıldız, F. Genel, ve B. Özkan, “İki Psödohipoaldosteronizm Olgusu”, Güncel Pediatri, c. 12, sy. 3, ss. 183–186, 2014, doi: 10.4274/jcp.66376.
ISNAD Korkmaz, Hüseyin Anıl vd. “İki Psödohipoaldosteronizm Olgusu”. Güncel Pediatri 12/3 (Aralık 2014), 183-186. https://doi.org/10.4274/jcp.66376.
JAMA Korkmaz HA, Dizdarer C, Yıldız M, Genel F, Özkan B. İki Psödohipoaldosteronizm Olgusu. Güncel Pediatri. 2014;12:183–186.
MLA Korkmaz, Hüseyin Anıl vd. “İki Psödohipoaldosteronizm Olgusu”. Güncel Pediatri, c. 12, sy. 3, 2014, ss. 183-6, doi:10.4274/jcp.66376.
Vancouver Korkmaz HA, Dizdarer C, Yıldız M, Genel F, Özkan B. İki Psödohipoaldosteronizm Olgusu. Güncel Pediatri. 2014;12(3):183-6.