Konjenital a�r� duyars�zl�k ve anhidrosis sendromu olan iki karde�in anestezik y�netimi

ISSN : 1300-0012 E-ISSN 2458-9446

Anasayfa | �leti�im | ENG

Cilt: 36 Say�: 2 Y�l: 2024

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Konjenital a�r� duyars�zl�k ve anhidrosis sendromu olan iki karde�in anestezik y�netimi [A�r�]

A�r�. 2019; 31(4): 202-205 | DOI: 10.14744/agri.2019.91297

Konjenital a�r� duyars�zl�k ve anhidrosis sendromu olan iki karde�in anestezik y�netimi

Dilek Destegul¹, Fazilet Koca�z¹, Ahmet Sinan Sar�²
¹Ni�de �mer Halisdemir �niversitesi T�p Fak�ltesi Anesteziyoloji ve reanimasyon Ana Bilim Dal�, Ni�de
²Ni�de �mer Halisdemir �niversitesi T�p Fak�ltesi Ortopedi ve Travmatoloji Ana Bilim Dal�, Ni�de

Konjenital a�r�ya duyars�zl�k sendromu, konjenital duysal ve otonomik n�ropatiye ba�l� geli�en a�r�ya duyars�zl�k, anhidrozis, epizodik ate�, geli�me gerili�i, farkl� d�zeylerde mental retardasyon ve kendine zarar verme ile karakterize nadir g�r�len bir sendromdur. N�rotrofik tirozin kinaz�n kodland�� n�rtrofik tirozin kinaz-1 genindeki mutasyon sonucu meydana gelen otozomal resesif bir sendromdur. �o�u hasta hastaneye a�r�s�z iyile�meyen yaralar ve farkedilmeyen travmatik k�r�klar ile ba�vurmaktad�r. Bu yaz�m�zda on yedi ve on d�rt ya��nda a�r�y� hissetmeme, anhidrosis, mental retardasyon ve septik artriti olan iki karde�i sunmaktay�z. Konjenital a�r�ya duyars�zl�k sendromu olan hastalarda, tek ba��na midazolom ile sedasyon, tatminkar bir cerrahi konforu, herhangi bir hemodinamik bir instabilite yaratmadan sa�lamaktad�r.

Anahtar Kelimeler: A�r�ya duyars�zl�k, CIPA; konjenital a�r�ya duyars�zl�k sendromu.

Anesthetic management of two siblings with congenital insensitivity to pain with anhidrosis syndrome

Dilek Destegul¹, Fazilet Koca�z¹, Ahmet Sinan Sar�²
¹Department of Anesthesiology and Reanimation, �mer Halisdemir University Faculty of Medicine, Ni�de, Turkey
²Department of Orthopedic and Traumatology, �mer Halisdemir University Faculty of Medicine, Ni�de, Turkey

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare syndrome characterized by a lack of sensitivity to pain due to congenital sensory and autonomic neuropathies, anhidrosis, an inability to regulate body temperature, growth retardation, mental retardation at different levels of severity, and inadvertent self-harm. It is an autosomal recessive disorder that is result of a mutation in the neurotrophic receptor tyrosine kinase 1 gene, which encodes neurotrophic tyrosine kinase. CIPA patients are frequently admitted to hospitals with unrecognized traumatic fractures and unhealed wounds due to the lack of a pain response. Presently described is the method of anesthetic management used for 2 siblings, aged 17 and 14 years, with a generalized lack of pain, anhidrosis, mental retardation, and septic arthritis. Sedation with midazolam alone provided satisfactory surgical comfort without causing hemodynamic instability in these 2 patients with CIPA syndrome.

Keywords: Congenital insensitivity to pain syndrome with anhidrosis, pain insensitivity.

Dilek Destegul, Fazilet Koca�z, Ahmet Sinan Sar�. Anesthetic management of two siblings with congenital insensitivity to pain with anhidrosis syndrome. A�r�. 2019; 31(4): 202-205

Sorumlu Yazar: Dilek Destegul, T�rkiye

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