Topics in Pediatric Leukemia -- Fanconi's Anemia: New Insights

Noah Federman, MD; Kathleen M. Sakamoto, MD, PhD

Introduction

The inherited bone marrow failure syndromes in children comprise a number of rare congenital disorders in which the bone marrow is unable to produce blood cells; this results in a deficiency of 1 or more cell lines. Studies on the pathogenesis of bone marrow failure syndromes have helped to elucidate the regulation of cellular growth and differentiation in the hematopoietic environment.^[1]

Over the last decade, we have achieved a greater understanding of the genetic and molecular aspects of these rare disorders. Genes have been identified for many of the inherited syndromes. This article reviews Fanconi's anemia (FA), the most common of the rare inherited bone marrow failure syndromes, and discusses new insights on the pathophysiology of this disease.

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Cite this: Topics in Pediatric Leukemia -- Fanconi's Anemia: New Insights - Medscape - Apr 06, 2005.

Introduction
Clinical Features
New Insights Into the Genetic and Molecular Basis of FA
Diagnosis
Management
Gene Therapy
Conclusion
References

Congenital Anomalies Associated With FA
Congenital Anomaly	Approximate Percentage of FA Patients Affected
Skeletal (radial ray, hip, rib, and vertebral) anomalies	70%
Skin pigmentation (café au lait, hypopigmentation)	60%
Short stature	60%
Eyes (hypertelorism, hypotelorism, microphthalmia, ptosis, or epicanthal folds)	35% to 40%
Genitourinary anomalies (ectopic kidney, horseshoe kidney, dysplastic kidney, or hypospadias)	35%
Neurologic anomalies (microcephaly, mental retardation, hydrocephalus, or deafness)	30%
Gastrointestinal anomalies (imperforate anus, esophageal atresia, duodenal atresia)	10% to 15%
Cardiac anomalies (patent ductus arteriosus, atrial septal defects, ventricular septal defects, tetralogy of Fallot)	10% to 15%
No anomalies	30%

FA = Fanconi's anemia

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Topics in Pediatric Leukemia -- Fanconi's Anemia: New Insights

Introduction

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References

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