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Reply DIAGNOSIS OF FANCONI ANEMIA N. G. Papadopoulos, MD, E. Papadaki, MD, S. Kitsiou-Tzeli, MD, Th. Farmakakis, MD, and A. Fretzayas, MD h 2nd Department of Pediatrics, University of Athens, Goudi, Greece It is certainly dif® cult to achieve a functional de® nition of a syndrome while its basic mechanisms are still obscure. From the clinical point of view, our case [1] together with a small number of similar ones would have been diagnosed as Fanconi anemia, if the clastogenic stress test has not been de- ® ned as an essential criterion [2]. On the other hand, cases with a positive clastogenic stress test not combined with a typical clinical presentation must also be considered [3]. A wider de® nition, as suggested by Prof. È Ozsoylu, may well prove bene- ® cial to the management of these patients. Subgroups within the ªFanconiº range, in terms of both genetic background and prognostic value, could probably be de® ned in the future. REFERENCES 1. Papadopoulos NG, Papadaki E, Kitsiou-Tzeli S, Farmakakis Th, Fretzayas A. A case of non-Fanconi anemia bone marrow dysfunction with familial involvement. Pediatr Hematol Oncol. 1998;15:277± 281. 2. Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood. 1989;73:391± 396. 3. Alter BP. Fanconi’s anemia and its variability. Br J Hematol. 1993;85:9± 14. Received 21 September 1998; accepted 21 September 1998. Address correspondence to Professor A. Fretzayas, 2nd Department of Pediatrics, University of Athens, ªP & A Kyriakouº Children’s Hospital, Thevon & Levadias 11527, Goudi, Greece. Pediatric Hematology and Oncology, 16:273, 1999 Copyright C ° 1999 Taylor & Francis 0888-0018/99 $12.00 + .00 273 Pediatr Hematol Oncol Downloaded from informahealthcare.com by Universitat de Girona on 10/28/14 For personal use only.

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Page 1: DIAGNOSIS OF FANCONI ANEMIA

Reply

DIAGNOSIS OF FANCONI ANEMIA

N. G. Papadopoulos, MD, E. Papadaki, MD, S. Kitsiou-Tzeli, MD, Th. Farmakakis,MD, and A. Fretzayas, MD h 2nd Department of Pediatrics, Universityof Athens, Goudi, Greece

It is certainly dif® cult to achieve a functional de ® nition of a syndromewhile its basic mechanisms are still obscure. From the clinical point of view,our case [1] together with a small number of similar ones would have beendiagnosed as Fanconi anemia, if the clastogenic stress test has not been de-® ned as an essential criterion [2]. On the other hand, cases with a positiveclastogenic stress test not combined with a typical clinical presentation mustalso be considered [3].

A wider de® nition, as suggested by Prof. ÈOzsoylu, may well prove bene-® cial to the management of these patients. Subgroups within the ªFanconiºrange, in terms of both genetic background and prognostic value, couldprobably be de® ned in the future.

REFERENCES

1. Papadopoulos NG, Papadaki E, Kitsiou-Tzeli S, Farmakakis Th, Fretzayas A. A case of non-Fanconi

anem ia bone marrow dysfunction with fam ilial involvement. Pediatr Hematol Oncol. 1998;15:277± 281.

2. Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi Anem ia Registry: relation of

clinical symptoms to diepoxybutane sensitivity. Blood. 1989;73:391± 396.

3. Alter BP. Fanconi’s anemia and its variability. Br J Hematol. 1993;85:9 ± 14.

Received 21 September 1998; accepted 21 September 1998.

Address correspondence to Professor A. Fretzayas, 2nd Department of Pediatrics, University of

Athens, ªP & A Kyriakouº Children’s H ospital, Thevon & Levadias 11527, Goudi, Greece .

Pediatric Hem atology and Oncology, 16:273, 1999

Copyright C° 1999 Taylor & Francis

0888-0018/99 $12.00 + .00 273

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