Buradasınız

İkiz olgu raporunda tuz kaybının farklı klinik yansıması: izole hipoaldosteronizm

A different clinical presentation of salt wasting in the case report of twins: selective hypoaldosteronism

Journal Name:

Publication Year:

Keywords (Original Language):

Abstract (2. Language): 
Selective hypoaldosteronism is a rare cause of life-threatening salt wasting in the neonatal period. Patients are most frequently diagnosed with the clinical signs of aldosterone deficiency during the first week of life. In this case report, twin premature newborns who were diagnosed with different clinical presentations with hyperkalemia and hyponatremia in the first and 5th months of life are presented. The electrolyte values of the twin cases diagnosed to have selective hypoaldosteronism improved rapidly after administration of oral salt (NaCl) and fludrocortisone treatments. It should be kept in mind that selective hypoaldosteronism should be considered in the differential diagnosis of salt-losing pathologies in the neonatal period, and patients may present with different clinical findings in the first month of life.
Abstract (Original Language): 
İzole hipoaldosteronizm, yenidoğan döneminde yaşamı tehdit eden tuz kaybının nadir bir nedenidir. Hastalar sıklıkla yaşamın ilk haftasında aldosteron eksikliğinin klinik bulguları ile tanı alırlar. Bu olgu sunumunda, hiperkalemi ve hiponatreminin eşlik ettiği yaşamın 1. ve 5. ayında farklı klinik bulgularla tanı alan ikiz prematüre olgular sunulmuştur. İzole aldosteron eksikliği tanı- sı alan ikiz olgulara oral tuz (NaCl) ve fludrokortizon tedavisi uygulanması sonrası elektrolit değerleri hızla normale döndü. İzole aldosteron eksikliği, yenidoğan döneminde tuz kaybı ile giden patolojilerin ayırıcı tanısında dü- şünülmeli ve yaşamın ilk ayında farklı klinik bulgularla başvurabilecekleri de akılda tutulmalıdır.
143-147

REFERENCES

References: 

Kaynaklar
1. Kayes-Wandover KM, Tannin GM, Shulman D, et
al. Congenital hyperreninemic hypoaldosteronism
unlinked to the aldosterone synthase (CYP11B2) gene.
J Clin Endocrinol Metab 2001; 86: 5379-5382.
2. White PC. Disorders of aldosterone biosynthesis and
action. N Engl J Med 1994; 331: 250-258.
3. White PC. Aldosterone synthase deficiency and related
disorders. Mol Cell Endocrinol 2004; 217: 81-87.
4. Cinaz P. Adrenal yetmezlik tanısında kullanılan testler.
In: Yordam N, Alikaşifoğlu A, Bideci A (eds). Çocuk ve
Adölesanda Endokrin Testler. Pediatrik Endokrinoloji ve
Oksoloji Derneği Yayınları: 2. Ankara: Öncü Basımevi,
2006: 151-173.
5. Zennaro MC, Lombes M. Mineralocorticoid resistance.
Trends Endocrinol Metab 2004; 15: 264-270.
6. Peter M, Dubuis JM, Sippell WG. Disorders of the
aldosterone synthase and steroid 11beta-hydroxylase
deficiencies. Horm Res 1999; 51: 211-222.
7. Lee PD, Patterson BD, Hintz RL, Rosenfeld RG.
Biochemical diagnosis and management of
corticosterone methyl oxidase type II deficiency. J Clin
Endocrinol Metab 1986; 62: 225-229.
8. Wasniewska M, De LF, Valenzise M, Lombardo F, De
LF. Aldosterone synthase deficiency type I with no
documented homozygous mutations in the CYP11B2
gene. Eur J Endocrinol 2001; 144: 59-62.
9. Ulick S, Wang JZ, Morton DH. The biochemical
phenotypes of two inborn errors in the biosynthesis
of aldosterone. J Clin Endocrinol Metab 1992; 74:
1415-1420.Cilt 52 • Sayı 2 İzole hipoaldosteronizm • 147
10. Belot A, Ranchin B, Fichtner C, et al.
Pseudohypoaldosteronisms, report on a 10-patient
series. Nephrol Dial Transplant 2008; 23: 1636-1641.
11. Geller DS. Mineralocorticoid resistance. Clin Endocrinol
(Oxf) 2005; 62: 513-520.
12. Oberfield SE, Levine LS, Carey RM, Bejar R, New MI.
Pseudohypoaldosteronism: multiple target organ
unresponsiveness to mineralocorticoid hormones. J
Clin Endocrinol Metab 1979; 48: 228-234.
13. Candemir M, Semiz S, Özdemir ÖMA. Kistik fibrozisli
bir olguda psödo-Bartter sendromu. Turkiye Klinikleri J
Pediatr 2008; 17: 194-197.
14. Nicolaidou M, Apastopoulou E, Samara V. Excretion
of Sodium-24 and Barium-82 in Cystic Fibrosis. J Nucl
Med 1966; 7: 153-158.
15. Torpy DJ, Stratakis CA, Chrousos GP. Familial
hyperaldosteronism. Braz J Med Biol Res 2000; 33:
1149-1155.
16. White PC, Speiser PW. Congenital adrenal hyperplasia
due to 21-hydroxylase deficiency. Endocr Rev 2000; 21:
245-291.
17. Stapenhorst L. 9 α-fluorohydrocortisone therapy in
aldosterone synthase deficiency. Pediatr Nephrol 2005;
20: 839

Thank you for copying data from http://www.arastirmax.com