Report of a Family with Fanconi Anemia and Ataxia-TelangiectasiaTürkan Patıroğlu1, Selmin Murataldı1, Yusuf Özkul2, Esat Köklü11Department Of Pediatric Haematology, Erciyes University Medical Faculty, Kayseri, Turkey
2Department Of Genetics, Erciyes University Medical Faculty, Kayseri, Turkey
We diagnosed two boys with two different chromosomal instability disorders such as Fanconi anemia (FA) and ataxia-telangiectasia (AT) in the same family. The phenotype of the first sibling supports the diagnosis of ataxia-telangiectasia. He had ataxia, telangiectasias on bulbar conjunctivas, a high level of alpha-fetoprotein, low levels of IgA and IgE, and a defective cell-mediated immunity. Cytogenetic studies of the peripheral lymphocytes revealed a chromosomal sensitivity to ionizing radiation. His 8-years-old brother had pancytopenia but had no ataxia and telangiectasia. He had a normal level of immunoglobulins and alpha-fetoprotein. His cell-mediated immunity was also normal. Cytogenetic studies showed no evidence spontaneus chromosome aberrations; however, there was a mild increase in the rate of diepoxybutane (DEB) and also an increased chromosome aberrations in the mitomycin C (MMC) treated samples than the control. The parent of the boys and 5th child were healty. The first child had normal hematological and immunological features, but he had a mild increase in the rate of DEB. The 4th child had an increased rate of DEB-induced chromosome aberrations. To our knowledge, this is the first family with FA and AT in Turkey and it is reported because of its rarity. Keywords: Fanconi anemia, Ataxia-telangiectasia.
Aynı Ailede Ataksi-Telanjektazi ve Fanconi Anemisi BirlikteliğiTürkan Patıroğlu1, Selmin Murataldı1, Yusuf Özkul2, Esat Köklü11Department Of Pediatric Haematology, Erciyes University Medical Faculty, Kayseri, Turkey
2Department Of Genetics, Erciyes University Medical Faculty, Kayseri, Turkey
Aynı ailenin iki erkek çocuğunda ataksi telanjektazi (AT) ve Fanconi anemisi (FA) gibi iki farklı tip kromozomal kırılma bozukluğu olduğu tanımlandı. Fenotipik olarak AT tanısı konulan ilk hastada bulbar konjunktivada telanjektazi, alfa-föto protein yüksekliği, ıgA ve ıgE`nin eksikliği, hücresel immünitenin bozukluğu tanıyı desteklemekteydi. Sitogenetik çalışmada periferal kan lenfositlerinin iyonize radyasyona karşı hassasiyeti saptandı. Pansitopenisi olan sekiz yaşındaki erkek kardeşinde immünglobulin, alfa-föto protein değerleri ve hücresel immünite normal bulundu. Sitogenetik çalıflmada spontan kırık gözlenmemesine rağmen diepoksi bütan (DEB) ile hafif, mitomisin-C ile fazla miktarda kromozomal kırılma saptandı. Ailenin beşinci erkek çocuğu sağlıklı idi ancak normal hematolojik ve immünolojik bulgulara sahip olan ilk çocukta DEB testinde hafif bozulma varken dördüncü çocukta DEB testi bozuk olarak saptandı. Bilgilerimize göre Türkiye`deki FA ve AT beraberliği olan ilk aile olması nedeniyle bu ender durum rapor edildi. Anahtar Kelimeler: Fanconi anemisi, Ataksi-telanjektazi.
Türkan Patıroğlu, Selmin Murataldı, Yusuf Özkul, Esat Köklü. Report of a Family with Fanconi Anemia and Ataxia-Telangiectasia. Turk J Hematol. 2004; 21(1): 33-37
Corresponding Author: Türkan Patıroğlu, Türkiye |
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