Fanconi anemia


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia, Wikipedia.

Fan·co·ni syn·drome

(fahn-kō'nē), [MIM*227650-227660]
1. a type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family (an autosomal recessive trait in at least five nonallelic types [MIM*227650, 227600, 227645, 227646, 600901]); the anemia is normocytic or slightly macrocytic, macrocytes and target cells may be found in the circulating blood, and the leukopenia usually is due to neutropenia. Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia. Synonym(s): congenital aplastic anemia, congenital pancytopenia, Fanconi anemia, Fanconi pancytopenia
2. a group of conditions with characteristic disorders of renal tubular function, which may be classified as: cystinosis, an autosomal recessive disease of early childhood; adult Fanconi syndrome, a rare hereditary form, probably due to a recessive gene different from that found in cystinosis, characterized by the tubular malfunction seen in cystinosis and by osteomalacia, but without cystine deposit in tissues; acquired Fanconi syndrome, which may be associated with multiple myeloma or may result from chemical poisoning, injury, or persisting damage of proximal tubular epithelium due to various causes, leading to multiple defects of tubular function.

Fan·co·ni a·ne·mi·a

(fahn-kō'nē ă-nē'mē-ă)
A type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family (an autosomal recessive trait in at least five nonallelic types); the anemia is normocytic or slightly macrocytic, macrocytes and target cells may be found in the circulating blood, and the leukopenia usually is due to neutropenia. Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia.
Synonym(s): Fanconi syndrome (1) .

Fanconi,

Guido, Swiss pediatrician, 1892-1979.
De Toni-Fanconi syndrome - see under De Toni
Debré-De Toni-Fanconi syndrome - Synonym(s): Fanconi syndrome
Fanconi-Albertini-Zellweger syndrome - syndrome characterized by multiple conditions including congenital heart defect, microdontia, metabolic acidosis, and bone-related problems as well as growth retardation.
Fanconi anemia - a type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies. Synonym(s): congenital aplastic anemia; congenital pancytopenia; Fanconi pancytopenia; Fanconi syndrome (1)
Fanconi pancytopenia - Synonym(s): Fanconi anemia (1)
Fanconi syndrome (1) - Synonym(s): Fanconi anemia; - (2) a group of conditions with characteristic disorders of renal tubular function.Synonym(s): Debré-De Toni-Fanconi syndrome
Lignac-Fanconi syndrome - see under Lignac
Wissler-Fanconi syndrome - see under Wissler
References in periodicals archive ?
The goal is to translate the knowledge into treatments for both Fanconi anemia and for the broader problem of bone marrow failure.
Mutual exclusivity and co-occurrence analysis of C-terminus of the centromere-associated protein E and FA genes, including complementation group A from 26 studies of The Cancer Genome Atlas data (total samples: 9377) Gene A Gene B Neither Not BA B Not A BOTH Log OR p value CENPE FANCA 6412 161 196 22 1.497 <0.001 Tendency Result Co-occurrence Significant CENPE: Centrosome-associated Protein E; FANCA: Fanconi Anemia genes, including Complementation group A ; OR: odds ratio
Postoperative complications n Complications necessitating surgical intervention (volvulus, ventriculoperitoneal shunt infection, or small bowel 3 obstruction) Guide thread erroneously cut off * 1 Local skin infection at jejunostomy 5 Blockage of feeding tube due to incrustations 2 Dysfunction caused by kinking of feeding tube 2 Persistent jejunal fistula in an immunocompromised child 1 suffering from Fanconi anemia and GvHD Total 14 * In one child (patient 7), a nurse erroneously cut off the guide thread and the jejunal tube fell off.
* The report provides a snapshot of the global therapeutic landscape of Fanconi Anemia
Huang, "The Fanconi anemia pathway and DNA interstrand cross-link repair," Protein and Cell, vol.
Fludarabine-based reduced intensity conditioning for stem cell transplantation of Fanconi anemia patients from fully matched related and unrelated donors.
All five types of Fanconi Anemia, a red and white blood cell and platelet deficiency, are inherited, but Type C is the most common.
Enter the Institute for Justice, which in 2009 filed suit on behalf of a group of patients, including Lewiston, Maine mother Doreen Flynn, three of whose children are afflicted with a blood disease called Fanconi anemia. Without marrow transplants in their teens, few with the disease are likely to survive.
On Friday, January 27, Wildes was finally able to meet the girl whose life he saved, a six-year-old Evansdale, Towa, girl who suffered from Fanconi anemia, an extremely rare genetic blood disorder that attacks the bone marrow.
Most common causes reported in children are aplastic anemia, megaloblastic anemia, infections like malaria, enteric fever, leishmaniasis, Fanconi anemia, malignancies like acute lymphoblastic leukemia and myelodysplasia.5 Clinical presentation of pancytopenia varies from mild pallor to severe anemia, bleeding tendencies including petechiae, bruises and bleeding in the vital organs leading to life threatening emergencies.6 Early diagnosis of various causes of pancytopenia are very crucial and require prompt clinical examination and investigations like complete blood count, peripheral smear and bone marrow examination.
In addition to serving its clientele, SYSTEMATICS and its 30 employees are staunch supporters of several community non-profit organizations, including the Shrewsbury American Youth Football and Cheer Organization, which serves hundreds of the area's young athletes, Coley's Cause, which raises funds for fighting the orphan disease Fanconi Anemia, and the Tufts Health Plan 10K for Women.

Full browser ?