Triple A Sendromlu Hastada Genel Anestezi Yönetimi

Triple A (Allgrove, AAA) sendromu akalazya, alakrima ve adrenal yetmezliğin birlikte görüldüğü nadir otozomal resesif bir bozukluktur. Nörolojik bozukluklar ve otonom nöropati de bu sendromla birlikte sık görülen durumlardır. Adrenal yetmezlik; ameliyat, enfeksiyon veya travma gibi durumlarda adrenal krize sebep olabilir. Bu da çeşitli ameliyatlar için anestezi sırasında anestezistleri zor durumlarla karşı karşıya getirebilir. Bu olgu ile Triple A sendromlu bir çocuğun anestezi yönteminde dikkat edilmesi gereken noktalarla ilgili deneyimlerimizi paylaşmayı amaçladık.

General Anesthesia Management in a Patient with Triple A Syndrome

Triple A (Allgrove, AAA) syndrome is a rare autosomal recessive disorder that coexists with achalasia, alacrimia and adrenocorticotropic hormone–resistant adrenal insufficiency. Neurological disorders and autonomic neuropathy are often conditions with this syndrome. Adrenal insufficiency; may cause an adrenal crisis in conditions such as surgery, infection, or trauma. This can put anesthetists in difficult situations during anesthesia for various surgeries. With this case, we aimed to share our experiences regarding the points to be considered in an anesthesia method with triple A syndrome.

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  • 1. Allgrove, J, Clayden G.S, Grant, D.B, Macaulay, J.C, Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production, Lancet, 1978,1(8077), 1284–1286.
  • 2. Roucher-Boulez F, Brac de la Perriere A, Jacquez A, et al, Triple-A syndrome: a wide spectrum of adrenal dysfunction, European Journal of Endocrinology, 2018, 178(3), 199–207.
  • 3. Huebner, A, Yoon S.J, Ozkinay, F, et al. Triple A syndrome–clinical aspects and molecular genetics, Endocrine Research, 2000, 26(4), 751–759
  • 4. Gazarian, M, Cowell, CT, Bonney, M, Grigor, WG, The “4A” syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities, European Journal of Pediatrics, 1995, 154(1), 18–23.
  • 5. Brooks, B.P, Kleta, R, Stuart, C, et al, Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000–2005, Clinical Genetics, 2005, 68(3), 215–221.
  • 6. Huebner, A, Elias, L.L, Clark, A.J, ACTH resistance syndromes, Journal of Pediatric Endocrinology & Metabolism, 1999, 12(Suppl 1), 277–293.
  • 7. Brown, B, Agdere, L, Muntean, C, David, K, Alacrima as a harbinger of adrenal insufficiency in a child with Allgrove (AAA) syndrome, American Journal of Case Reports, 2016, 17, 703–706.
  • 8. Dumic, M, Barisic, N, Kusec, V, et al, Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome, European Journal of Pediatrics, 2012, 171(10), 1453– 1459.
  • 9. Prpic, I, Huebner, A, Persic, M, Handschug, K, Pavletic, M, Triple A syndrome: genotype-phenotype assessment, Clinical Genetics, 2003, 63(5), 415–417.
  • 10. Handschug, K, Sperling, S, Yoon, S.J, Hennig, S, Clark, A.J, Huebner, A, Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene, Human Molecular Genetics, 2001, 10(3), 283–290.
  • 11.Prasad, R, Metherell, L.A, Clark, A.J, Storr, H.L, Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis, Endocrinology, 2013, 154(9), 3209–3218.
  • 12. Gilio, F, Di Rezze, S, Conte, A, et al, Case report of adult-onset Allgrove syndrome, Neurological Sciences, 2007, 28(6), 331–335.
  • 13. Hadj-Rabia, S, Salomon, R, Pelet, A, et al, Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome, European Journal of Human Genetics, 2000, 8(8), 613–620.
  • 14.Hines, R.L, Marschall, K.E, Adrenal insufficiency, In: Hines RL, editör, Stoelting's Anesthesia and Co-Existing Disease. 5th ed. Philadelphia: Churchill Livingstone, Elsevier, 2008, pp. 436–7.
  • 15.Kasar, P.A, Khadilkar, V.V, Tibrewala, V.N, Allgrove syndrome, Indian Journal of Pediatrics, 2007, 74, 959–61.
  • 16.Anaesthetic management of a patient with Allgrove syndrome, Arun, B.G, Deepak, B.S, Chakravarthy, Murali R, Indian Journal of Anaesthesia, 2014
  • 17.Sarathi, V, Shah, N.S, Triple-A syndrome, Diseases of DNA Repair,Part of the Advances in Experimental Medicine and Biology.book series, 2010, 685, 1–8.
  • 18.Babu, K, Murthy, K.R, Babu, N, Ramesh, S, Triple A syndrome with ophthalmic manifestations in two siblings, Indian Journal of Ophthalmology, 2007, 55, 304–6.
  • 19. Karadağ Arlı, Ş, Cerrahi Bakımda Ağrı Yönetimine İlişkin Hemşirelik Girişimleri, Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, 2017, 4(3), 1013-1020.