Cyclic neutropenia: Difference between revisions
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* There is no established system for the [[classification]] of cyclic neutropenia. | * There is no established system for the [[classification]] of cyclic neutropenia. | ||
==Pathophysiology== | ==Pathophysiology== | ||
* Cyclic neutropenia is caused by a mutation in the ELA2 gene.<ref name=" | * Cyclic neutropenia is caused by a mutation in the ELA2 gene.<ref name="DaleBolyard2002">{{cite journal|last1=Dale|first1=David C.|last2=Bolyard|first2=Audrey Anna|last3=Aprikyan|first3=Andrew|title=Cyclic neutropenia|journal=Seminars in Hematology|volume=39|issue=2|year=2002|pages=89–94|issn=00371963|doi=10.1053/shem.2002.31917}}</ref><ref name="HorwitzCorey2013">{{cite journal|last1=Horwitz|first1=Marshall S.|last2=Corey|first2=Seth J.|last3=Grimes|first3=H. Leighton|last4=Tidwell|first4=Timothy|title=ELANE Mutations in Cyclic and Severe Congenital Neutropenia|journal=Hematology/Oncology Clinics of North America|volume=27|issue=1|year=2013|pages=19–41|issn=08898588|doi=10.1016/j.hoc.2012.10.004}}</ref> | ||
* The disease occurs in autosomal dominant mode of inheritance. | |||
==Causes== | ==Causes== | ||
* Cyclic neutropenia is caused by a mutation in the ELA2 gene.<ref name="HorwitzCorey2013">{{cite journal|last1=Horwitz|first1=Marshall S.|last2=Corey|first2=Seth J.|last3=Grimes|first3=H. Leighton|last4=Tidwell|first4=Timothy|title=ELANE Mutations in Cyclic and Severe Congenital Neutropenia|journal=Hematology/Oncology Clinics of North America|volume=27|issue=1|year=2013|pages=19–41|issn=08898588|doi=10.1016/j.hoc.2012.10.004}}</ref> | * Cyclic neutropenia is caused by a mutation in the ELA2 gene.<ref name="HorwitzCorey2013">{{cite journal|last1=Horwitz|first1=Marshall S.|last2=Corey|first2=Seth J.|last3=Grimes|first3=H. Leighton|last4=Tidwell|first4=Timothy|title=ELANE Mutations in Cyclic and Severe Congenital Neutropenia|journal=Hematology/Oncology Clinics of North America|volume=27|issue=1|year=2013|pages=19–41|issn=08898588|doi=10.1016/j.hoc.2012.10.004}}</ref> | ||
Revision as of 21:30, 27 August 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Cyclic hematopoiesis
Overview
Cyclic neutropenia is a condition in which the neutrophil count periodically and regularly rises and falls. It is rarely observed in humans, but has been observed in the Grey Collie dog.
Historical Perspective
- Cyclic neutropenia first described in the year 1910 in an infant with recurrent fever.[1]
Classification
- There is no established system for the classification of cyclic neutropenia.
Pathophysiology
- Cyclic neutropenia is caused by a mutation in the ELA2 gene.[1][2]
- The disease occurs in autosomal dominant mode of inheritance.
Causes
- Cyclic neutropenia is caused by a mutation in the ELA2 gene.[2]
Differentiating Cyclic neutropenia from Other Diseases
Epidemiology and Demographics
- The incidence of cyclic neutropenia is 0.010-0.02 per 100,000 individuals worldwide.[3]
Risk Factors
- There are no established risk factors for cyclic neutropenia.
Screening
- There is insufficient evidence to recommend routine screening for cyclic neutropenia.
Natural History, Complications, and Prognosis
- Disease manifests in early years of life with episodes of fever occurring every 21 days (range from 14 to 35 days).[4]
- The hallmark of this disorder is the predictability of the fever episodes.
- Patients may also present with gingivitis, stomatitis, and malaise.
- During episodes, patients are neutropenic.
Diagnosis
Diagnostic Criteria
History and Symptoms
- Symptoms of cyclic neutropenia include fever, malaise, oral ulcers, gingival inflammation, edema, and sore throat.[5][6]
Physical Examination
- Physical examination of patients with cyclic neutropenia include:[5]
- Fever
- Pharyngitis
- Gingival inflammation and edema
Laboratory Findings
- Laboratory findings associated with the diagnosis of cyclic neutropenia include:
- Low absolute neutrophilic count
Electrocardiogram
- There are no ECG findings associated with cyclic neutropenia.
X-ray
- There are no x-ray findings associated with cyclic neutropenia.
Echocardiography or Ultrasound
- There are no echocardiography/ultrasound findings associated with cyclic neutropenia.
CT Scan
- There are no CT scan findings associated with cyclic neutropenia.
MRI
- There are no MRI findings associated with cyclic neutropenia.
Other Imaging Findings
- There are no other imaging findings associated with cyclic neutropenia.
Other Diagnostic Studies
- There are no other diagnostic studies associated with cyclic neutropenia.
Treatment
Medical Therapy
- The mainstay of treatment for cyclic neutropenia is medical therapy.[7][8]
- Granulocyte colony-stimulating factor (G-CSF) may be used to treat cyclic neutropenia.
Surgery
- Surgical intervention is not recommended for the management of cyclic neutropenia.
Primary Prevention
- There are no established measures for the primary prevention of cyclic neutropenia.
Secondary Prevention
- There are no established measures for the secondary prevention of cyclic neutropenia.
References
- ↑ 1.0 1.1 Dale, David C.; Bolyard, Audrey Anna; Aprikyan, Andrew (2002). "Cyclic neutropenia". Seminars in Hematology. 39 (2): 89–94. doi:10.1053/shem.2002.31917. ISSN 0037-1963.
- ↑ 2.0 2.1 Horwitz, Marshall S.; Corey, Seth J.; Grimes, H. Leighton; Tidwell, Timothy (2013). "ELANE Mutations in Cyclic and Severe Congenital Neutropenia". Hematology/Oncology Clinics of North America. 27 (1): 19–41. doi:10.1016/j.hoc.2012.10.004. ISSN 0889-8588.
- ↑ Bellanné-Chantelot C, Clauin S, Leblanc T, Cassinat B, Rodrigues-Lima F, Beaufils S, Vaury C, Barkaoui M, Fenneteau O, Maier-Redelsperger M, Chomienne C, Donadieu J (June 2004). "Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register". Blood. 103 (11): 4119–25. doi:10.1182/blood-2003-10-3518. PMID 14962902.
- ↑ Dale DC, Bolyard AA, Aprikyan A (April 2002). "Cyclic neutropenia". Semin. Hematol. 39 (2): 89–94. PMID 11957190.
- ↑ 5.0 5.1 Palmer SE, Stephens K, Dale DC (December 1996). "Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis". Am. J. Med. Genet. 66 (4): 413–22. doi:10.1002/(SICI)1096-8628(19961230)66:4<413::AID-AJMG5>3.0.CO;2-L. PMID 8989458.
- ↑ Lange RD, Jones JB (1981). "Cyclic neutropenia. Review of clinical manifestations and management". Am J Pediatr Hematol Oncol. 3 (4): 363–7. PMID 7036779.
- ↑ Hammond WP, Price TH, Souza LM, Dale DC (May 1989). "Treatment of cyclic neutropenia with granulocyte colony-stimulating factor". N. Engl. J. Med. 320 (20): 1306–11. doi:10.1056/NEJM198905183202003. PMID 2469956.
- ↑ Bonilla MA, Dale D, Zeidler C, Last L, Reiter A, Ruggeiro M, Davis M, Koci B, Hammond W, Gillio A (December 1994). "Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias". Br. J. Haematol. 88 (4): 723–30. doi:10.1111/j.1365-2141.1994.tb05110.x. PMID 7529539.