تشخيص متلازمة فنكوني في مستشفى الأطفال الجامعي

الملخص EN

Background: Fanconi anemia is the most commonly inherited pancytopenia.

It has high locus heterogeneity and variable expression which impedes, in many cases, the confirmation of diagnosis.

Objective: presentating the experience of Damascus University Children Hospital in diagnosing Fanconi syndrome in addition to introducing the chromosomal breakage test by DEB (cross linker), for the first time, as a diagnostic golden test to this disorder in typical and non-typical cases in order to aid the hematologists and oncologists in diagnosis, management, following up their patients, and in diagnosing the disease in the siblings of the patients.

Materials and methodology: A retrospective study was conducted from the year 2000 to 2007, and a prospective study from 2007 to the half of 2015.

Fifty two patients were included in the two studies, and the DEB test was applied during the prospective study to 26 patients.

Results: The mean age in diagnosis was 6.6 year, the ratio of the males to females was 2:1.

99% had a failure of thrive, 89% had skin pigmentation, 36% had renal malformations, 32% with upper limb malformations, and 15% had malignancies specially AML.

DEB test was applied to 26 patients.

It was positive in 5, negative in 2.

However it failed in 12.

Spontaneous chromosomal breakages were apparent in 7.

Conclusion: the mean age of diagnosis was 6.6 year, in line of other studies.

The frequency of symptoms in our study was different comparing to other studies.

The predominance of male to female was also clear.

The variable expression inter and interfamilial was also obvious.

Among the malignancies, the squamous cell carcinoma was not depicted.

The introduction of the DEB test has contributed in confirming and ruling out the disease in the suspected cases and in the asymptomatic siblings of the patients.