Cengiz KARA, Aşan ÖNDER, Ayşegül ZENCİROĞLU, Zehra AYCAN, Semra ÇETİNKAYA

Multisistemik Ağır Form Psödohipoaldosteronizm: Gastrostomi Psödohipoaldosteronizm Yönetiminde Kullanılabilir mi?

10 günlük erkek bebek kusma şikayeti ile hastaneye getirildi. Başvuruda hipotonikti ve orta derece dehidratasyonu vardı. Hastanın laboratuvar bulgularında hiponatremi, hiperpotasemi ve orta derecede metabolik asidoz mevcuttu. Hormon profili psödohipoaldosteronizm tanısını desteklemekteydi (plasma renin aktivitesi: 45 ng/ml/h, aldosteron >20 000 pg/ ml, ACTH: 53 pg/ml, 17 OH progesteron: 6.7 ng/ml). Oral ve İV NaCl, anti-potasyum tedavi (kayeksalat), düşük potasyumlu mama başlandı. Günlük tuz ihtiyacı 12 gramdı. Olgu tuz ihtiyacının tamamını oral alamamaktaydı. Olgu üç aylık olduğunda solunum semptomları ve diyare epizodları gelişti. Ter sodyum konsantrasyonu 106 mEq/L bulundu. Bu nedenle multisistemik ağır form psödohipoaldosteronizm tip 1 tanısı konuldu. Ağır tuz kaybı karşılanamadı. Tedavilerini etkin verebilmek için gastrostomi planlandı. Ancak olgu tuz kaybı krizi ile kaybedildi.

Anahtar Kelimeler:

Çocuk, Gastrostomi, Psödohipoaldosteronizm

Multisystemic Severe Form Pseudohypoaldosteronism: Can Gastrostomy be Useful in the Management?

A ten-day-old male infant was brought to the hospital with vomiting. On admission, he was hypotonic and had accompanying mild dehydration. The laboratory findings revealed hyponatremia, hyperkalemia, and mild metabolic acidosis. The hormone profile (plasma renin activity: 45 ng/ml/h, aldosterone >20 000 pg/ml, ACTH: 53 pg/ml, 17 OH progesterone: 6.7 ng/ml) revealed pseudohypoaldosteronism (PHA). Oral and IV NaCl, anti-potassium therapy (kayexalate), and low-potassium formula were started. His daily salt requirement was 12 grams. He was not able to take this total salt requirement orally. Respiratory symptoms and diarrhea episodes developed at the age of 3 months. The sodium concentration of sweat was 106 mEq/L. He was therefore diagnosed with multisystemic severe form of type 1 PHA. Severe salt wasting could not be treated. We planned to perform gastrostomy to administer his medications effectively but he died due to a salt-wasting crisis

Keywords:

Child, Gastrostomy, Pseudohypoaldosteronism,

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Riepe FG. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res 2009;72:1-9
Choudhry S, Najam Y. Life threatening hyperkalemia in a neonate with pseudo-hypoaldosteronism. J Pak Med Assoc 2012;62: 287-8.
Sopfe J, Simmons JH. Failure to thrive, hyponatremia, and hyperkalemia in a neonate. Pediatr Ann 2013;42:74-9.
Zennaro M, Lombes M. Mineralocorticoid resistance. Trends Endocrinol Metab 2004;15:264-70.
Geller DS. Mineralocorticoid resistance. Clin Endocrinol 2005;62:513-20.
Riepe FG. Pseudohypoaldosteronism. Endocr Dev 2013;24:86- 95.
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.
Türkiye Çocuk Hast Derg/Turkish J Pediatr Dis / 2016; 2: 134-136
Bowden SA, Cozzi C, Hickey SE, Thrush DL, Astbury C, Nuthakki S. Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. Case Rep Endocrinol 2013;2013:524647.
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.