Triple A sendromlu bir olgu sunumu

Yıl 2019, Cilt: 2 Sayı: 1, 34 - 37, 01.04.2019

Cevdet Duran Zelal Adıbelli Ufuk Kutluana Aykut Şahin Ömer Karahan

https://doi.org/10.33713/egetbd.521446

Öz

Triple A veya Allgrove sendromu, kalıtsal
geçişli bir sendrom olup, başlıca akalazya, alakrima ve adrenokortikotropin (ACTH)
direnci-addisoniyanizm ile karekterizedir. Bu yazımızda başlangıçta Addison
hastalığı tanısı konulan, ancak takiplerinde ACTH direnci-Addisoniyanizmi ve
akalazyası saptanan, akalazya için önce buji dilatasyonu, devamında Heller’s
myotomi yapılan, ayrıca yine takiplerinde alakrima ve vokal kord paralizisi
gelişen Triple A sendromlu, 48 yaşındaki bir erkek bir olguyu sunduk. Triple A
sendromunda ACTH direncine bağlı adrenal yetersizlik gelişmekte ve hastalığın diğer
komponentleri başlangıçta ortaya çıkmayabilmektedir. Ayrıca bazı olgularda
nörolojik bozukluklarda görülebilmektedir. Özellikle mineralokortikoid ihtiyacı
olmayan adrenal yetersizlikli olgular addisoniyanizm ve sendromun diğer
spesifik iki bulgusu olan akalazya ve alakrima gelişimi yönünden takip
edilmelidir. 

Anahtar Kelimeler

Triple A sendromu, Allgrove sendromu, addisoniyanizm, akalazya, alakrima

Kaynakça

• 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 / European Federation of Endocrine Societies 2018;178 (3):199-207. doi:10.1530/eje-17-0642.
• Hallal C, Kieling CO, Nunes DL et al. Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experience. Pediatric surgery international 2012;28 (12):1211-1217. doi:10.1007/s00383-012-3214-3.
• Sarathi V, Shah NS Triple-A syndrome. Advances in experimental medicine and biology 2010;685:1-8.
• 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. doi:10.1007/s00431-012-1745-1.
• Singh K, Puri RD, Bhai P et al. Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases. Journal of pediatric endocrinology & metabolism : JPEM 2018;31 (7):799-807. doi:10.1515/jpem-2018-0023.
• Vishnu VY, Modi M, Prabhakar S, Bhansali A, Goyal MK "A" motor neuron disease. Journal of the neurological sciences 2014;336 (1-2):251-253. doi:10.1016/j.jns.2013.10.003.
• Prpic I, Huebner A, Persic M, Handschug K, Pavletic M Triple A syndrome: genotype-phenotype assessment. Clinical genetics 2003;63 (5):415-417.
• Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, 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.
• Kind B, Koehler K, Lorenz M, Huebner A The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. Biochemical and biophysical research communications 2009;390 (2):205-210. doi:10.1016/j.bbrc.2009.09.080.
• Houlden H, Smith S, De Carvalho M et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain : a journal of neurology 2002;125 (Pt 12):2681-2690.
• Bhargavan PV, Kumar KM, Rajendran VR, Fassaludeen AS Allgrove syndrome--a syndrome of primary adrenocortical insufficiency with achalasia of the cardia and deficient tear production. The Journal of the Association of Physicians of India 2003;51:726-728.
• Perry R, Kecha O, Paquette J, Huot C, Van Vliet G, Deal C Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. The Journal of clinical endocrinology and metabolism 2005;90 (6):3243-3250. doi:10.1210/jc.2004-0016.
• von Rahden BH, Filser J, Seyfried F, Veldhoen S, Reimer S, Germer CT [Diagnostics and therapy of achalasia]. Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen 2014;85 (12):1055-1063. doi:10.1007/s00104-014-2803-1.
• Sanyal D, Bhattacharjee S A case of late-onset allgrove syndrome presenting with predominant autonomic dysfunction. Annals of Indian Academy of Neurology 2013;16 (2):266-268. doi:10.4103/0972-2327.112494.
• Singer W, Low PA Early Orthostatic Hypotension and Orthostatic Intolerance-More Than an Observation or Annoyance. JAMA internal medicine 2017;177 (9):1324-1325. doi:10.1001/jamainternmed.2017.2923.