Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Chester Porphyria Follow-up

  • Author: Koyamangalath Krishnan, MD, FRCP, FACP; Chief Editor: Emmanuel C Besa, MD  more...
 
Updated: Apr 15, 2016
 

Complications

Complications of Chester porphyria include the following:

  • Malignant hypertension
  • Renal failure
  • Intracerebral hemorrhage
  • Bulbar palsy
  • Retinal hemorrhage
  • Hyponatremia (also listed as a precipitating factor)
  • Peripheral neuropathy
  • Myopathy
  • Coma and death
Next

Patient Education

Genetic counseling and discussion about Chester porphyria are essential components of clinical management.

Previous
 
Contributor Information and Disclosures
Author

Koyamangalath Krishnan, MD, FRCP, FACP Dishner Endowed Chair of Excellence in Medicine, Professor of Medicine, James H Quillen College of Medicine at East Tennessee State University

Koyamangalath Krishnan, MD, FRCP, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, American Society of Hematology, Royal College of Physicians

Disclosure: Nothing to disclose.

Coauthor(s)

Harsha G Vardhana, MD Chief Fellow, Medical Oncology, Department of Internal Medicine, James H Quillen College of Medicine at East Tennessee State University

Harsha G Vardhana, MD is a member of the following medical societies: American College of Physicians, American Society of Hematology, Tennessee Medical Association, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Stephen J Smith, MD Assistant Professor of Medicine, Department of Internal Medicine, Division of Hematology/Oncology, East Tennessee State University, James H. Quillen College of Medicine

Stephen J Smith, MD is a member of the following medical societies: Alpha Omega Alpha, Christian Medical and Dental Associations

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Marcel E Conrad, MD Distinguished Professor of Medicine (Retired), University of South Alabama College of Medicine

Marcel E Conrad, MD is a member of the following medical societies: Alpha Omega Alpha, American Association for the Advancement of Science, American Association of Blood Banks, American Chemical Society, American College of Physicians, American Physiological Society, American Society for Clinical Investigation, American Society of Hematology, Association of American Physicians, Association of Military Surgeons of the US, International Society of Hematology, Society for Experimental Biology and Medicine, SWOG

Disclosure: Partner received none from No financial interests for none.

Chief Editor

Emmanuel C Besa, MD Professor Emeritus, Department of Medicine, Division of Hematologic Malignancies and Hematopoietic Stem Cell Transplantation, Kimmel Cancer Center, Jefferson Medical College of Thomas Jefferson University

Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American Society of Clinical Oncology, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, New York Academy of Sciences

Disclosure: Nothing to disclose.

Additional Contributors

Clarence Sarkodee Adoo, MD, FACP Consulting Staff, Department of Bone Marrow Transplantation, City of Hope Samaritan BMT Program

Clarence Sarkodee Adoo, MD, FACP is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Society of Hematology, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

References
  1. Poblete-Gutiérrez P, Wiederholt T, Martinez-Mir A, et al. Demystification of Chester porphyria: a nonsense mutation in the porphobilinogen deaminase gene. Physiol Res. 2006. 55 suppl 2:S137-44. [Medline]. [Full Text].

  2. Crimlisk H. Dobson's complaint: the story of the Chester porphyria. BMJ. 1999 Jan 30. 318(7179):336A. [Medline]. [Full Text].

  3. Youngs GR, ed. Dobson's Complaint: The Story of the Chester Porphyria. London, England: The Royal College of Physicians of London; 1998.

  4. McColl KE, Thompson GG, Moore MR, et al. Chester porphyria: biochemical studies of a new form of acute porphyria. Lancet. 1985 Oct 12. 2(8459):796-9. [Medline].

  5. Qadiri MR, Church SE, McColl KE, Moore MR, Youngs GR. Chester porphyria: a clinical study of a new form of acute porphyria. Br Med J (Clin Res Ed). 1986 Feb 15. 292(6518):455-9. [Medline]. [Full Text].

  6. Bonkowsky HL, Schady W. Neurologic manifestations of acute porphyria. Semin Liver Dis. 1982 May. 2(2):108-24. [Medline].

  7. Norton B, Lanyon WG, Moore MR, et al. Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism. Hum Genet. 1993 Jul. 91(6):576-8. [Medline].

  8. Pischik E, Kazakov V, Kauppinen R. Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy?. J Neurol. 2008 Jul. 255(7):974-9. [Medline].

  9. Billoo AG, Lone SW. A family with acute intermittent porphyria. J Coll Physicians Surg Pak. 2008 May. 18(5):316-8. [Medline].

  10. Church SE. The Chester porphyria. MD thesis, University of Liverpool, United Kingdom. 1986.

  11. Sardh E, Rejkjaer L, Andersson DE, Harper P. Safety, pharmacokinetics and pharmacodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion. Clin Pharmacokinet. 2007. 46(4):335-49. [Medline].

Previous
Next
 
This schematic diagram of biochemical abnormality shows the sites of enzymatic defects of the various porphyrias on the left side of the diagram and the dual enzyme abnormality of Chester porphyria (deficiency of porphobilinogen deaminase [PBGD] and protoporphyrinogen oxidase) on the right. ALA = delta-aminolevulinate; COPRO = copro-porphyrin; HMB = hydroxymethylbilane; HMB-S = hydroxymethylbilane synthase; PROTO = protoporphyrin; URO = uroporphyrin.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.