FANCONI ANAEMIA IN CHILDREN: BRIDGING GENETIC COMPLEXITY, CLINICAL CHALLENGES, AND HOLISTIC NURSING CARE

Fanconi anaemia (FA) is a rare inherited multisystem disorder characterized by chromosomal instability, congenital abnormalities, progressive bone marrow failure, and increased susceptibility to malignancy. Common findings include short stature, abnormal skin pigmentation, upper-limb skeletal abnormalities, microcephaly, renal or genitourinary anomalies, and endocrine, ocular, auditory, or developmental problems. Bone-marrow failure often presents during childhood and may progress to pancytopenia. Diagnosis is supported by chromosome-breakage testing with diepoxy butane (DEB) or mitomycin C (MMC) and may be followed by molecular genetic testing. Management requires long-term haematology, genetics, and multidisciplinary surveillance. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for the hematologic manifestations, while other care is directed toward cytopenias, congenital anomalies, endocrine and nutritional needs, infection and bleeding prevention, and cancer surveillance. This journal-style review presents an illustrative paediatric case and emphasizes practical nursing assessment, family education, safety, and coordinated multidisciplinary care.