Psödohipoaldosteronizm Tip 1 Tanılı Bir Olgu ve Moleküler Genetik Etiyolojinin Araştırılması

Year 2017, Volume: 19 Issue: 3, 86 - 88, 22.07.2018

Semih Bolu , Mustafa Doğan , Recep Eröz , Hüseyin Yüce , Asuman Mermerci , Recep Özmerdivenli

Abstract

Pseudohipoaldosteronizm hiponatremi, hiperkalemi ve metabolik asidoz ile kendini gösteren ve renal tubül hücrelerinde aldosterona periferik yanıtsızlık sonucu oluşan bir tuz kaybı tablosudur. Periferik direnç mineralokortikoid reseptörü veya epitelyal sodyum kanalındaki mutasyon sonucu primer olabileceği gibi, enfeksiyon, üropati ve ilaçlara bağlı reseptör direncine bağlı olarak sekonder de gelişebilir. Tip 1 PHA hem otozomal dominant (sporadik-renal form) hem de otozomal resesif (sistemik form) olarak kalıtım göstermektedir. Sistemik psödohipoaldosteronizm tip 1 otozomal resesif kalıtılır ve en ağır formdur. Epitelyal sodyum kanalındaki (EnaC) üç subunitten: Alfa subunit (SCNN1A;12p13), Beta subunit (SCNN1B;16p12.2-p12.1), Gamma subunitlerin (SCNN1G;16p12) birinde fonksiyon kaybı yapan mutasyon sonucu meydana gelmektedir. Ailevi özellikteki primer psödohipoaldosteronizm tip1 olgusu nadir görülmesi ve diğer tuz kaybı ile giden hastalıklarla karışabilmesi nedeni ile literatüre katkı amaçlı sunulmuştur.

Keywords

Psödohipoaldosteronizm tip 1, tuz kaybı, yenidoğan

A Case with Pseudohypoaldosteronism Type 1 and Investigation of Molecular Genetic Etiology

Abstract

Pseudohypoaldosteronism is a salt-wasting pattern that manifests with hyponatremia, hyperkalemia, and metabolic acidosis, and is the result of aldosterone peripheral nonresponse in renal tubule cells. Peripheral resistance development may occur as a result of mutations in the mineralocorticoid receptor or epithelial sodium channel; it can also develop as a secondary to infection, uropathy and receptor resistance due to drug use. Type 1 PHA is inherited as both autosomal dominant (sporadic-renal form) and autosomal recessive (systemic form). Systemic pseudohypoaldosteronism type 1 is autosomal recessive and the most severe form. Loss of function in one of the three subunits of the epithelial sodium channel (EnaC) is responsible for the disease (the alpha subunit (SCNN1A; 12p13), the beta subunit (SCNN1B; 16p12.2-p12.1), and the Gamma subunit (SCNN1G; 16p12). We present a patient who was diagnosed the primary pseudohypoaldosteronism type 1 for contribution to the literature, which is a rare disease and can be confused with other diseases caused by salt loss.

Keywords

Pseudohypoaldosteronism type 1, salt-wasting, newborn

References

• 1. Kurtoğlu S, Hatipoğlu N, Büyükayhan D. Neonatal tuz kaybı tablosu. Türkiye Klinikleri Journal of Pediatric Science (Özel Sayı) 2008; 4: 90-105.
• 2. 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
• 3. Güran T, Değirmenci S, Bulut İK, Say A, Riepe FG, Güran Ö. Critical points in the management of pseudohypoaldosteronism type 1. J Clin Res Pediatr Endocrinol. 2011; 3: 98-100. Epub 2011 Jun 8.
• 4. Amin N, Alvi NS, Barth JH, Field HP, Finlay E, Tyerman K, et al. Pseudohypoaldosteronism type 1: clinical features and management in infancy. Endocrinol Diabetes Metab Case Rep 2013;2013:130010.
• 5. Akın MA, Çoban D, Kurtoğlu S, Akın L, Akçakuş M. Yenidoğanda İki Tuz Kaybı Olgusu: Primer ve Sekonder Psödohipoaldesteronizm. Erciyes Tıp Dergisi 2010; 32: 207-12.
• 6.Gündüz Z, Kurtoğlu S, Düşünsel R, Kendirci M, Melikoğlu A. Psödohipoaldosteronizm: idrarla tuz kaybına yol açan önemli durum. Ulusal Endokrinoloji Dergisi 1995; 5: 409-416.
• 7. Nicole Silva, Miguel Costaa, Albina Silva a, Carla Sáa, Sofia Martinsb, Ana Antunesb, Olinda Marquesb, Sérgio Castedoc, Almerinda Pereiraa. A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene. Endocrinol Nutr. 2013;60: 33-36
• 8. Viemann M, Peter M, López-Siguero JP, Simic-Schleicher G, Sippell WG. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. J Clin Endocrinol Metab 2001; 86: 2056-9.
• 9. Furgeson SB, Linas S. Mechanisms of type I and type II pseudohypoaldosteronism. J Am Soc Nephrol. 2010;21:1842–5.
• 10. Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, et al. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affectedby type I pseudohypoaldosteronism. J Clin Endocrinol Metab 2003; 88: 2508-17.84 Şişli
• 11. Turan I, Kotan LD, Tastan M, Gurbuz F, Topaloglu AK, Yuksel B. Molecular Genetic Studies in a Case Series of Isolated Hypoaldosteronism due to Biosynthesis Defects or Aldosterone Resistance, Clin Endocrinol (Oxf). 2018 Mar 27. doi: 10.1111/cen.13603.
• 12. Bahareh S, Moriarty MW, Cadnapaphorchai MA. Case report: severe neonatal hyperkalemia due to pseudohypoaldosteronism type 1. Curr Opin Pediatr. 2009;21: 269-71.
• 13. Manipriya R, Umamaheswari B, Prakash A, Binu N. Rare Cause of Hyperkalemia in the Newborn Period: Report of Two Cases of Pseudohypoaldosteronism Type 1. Indian J Nephrol. 2018 Jan-Feb;28(1):69-72.
• 14. Saravanapandian N, Paul S, Matthai J. Pseudohypoaldosteronism Type 1: A Rare Cause of Severe Dyselectrolytemia and Cardiovascular Collapse in Neonates. J Clin Neonatol. 2012 Oct;1(4): 224-6.
• 15. Dogan M, Eröz R, Yüce H, Özmerdivenli R, The Known about Next-Generation Sequencing (NGS) (Review of the Literature) Duzce Medical Journal 2017;19(1):27-30