eMedicine Specialties > Pediatrics: General Medicine > Hematology

Pyruvate Kinase Deficiency: Follow-up

Author: Hassan M Yaish, MD, Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology Services, Medical Director, Mountain States Hemophilia and Thrombophilia Treatment Center; Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center
Contributor Information and Disclosures

Updated: Oct 6, 2009

Follow-up

Further Inpatient Care

  • Periodic follow-up care is required in patients with pyruvate kinase (PK) deficiency to monitor the hemoglobin level, reticulocyte counts, and possible development of gallbladder stones.
  • Always monitor patients with splenectomies for possible fulminating infections. Ensure that such patients continue to receive prophylactic penicillin.

Deterrence/Prevention

  • In families known to be affected by pyruvate kinase deficiency, genetic counseling is the only practical means to prevent the condition. Genetic counseling offers an understanding of the potential risks involved with having children with another carrier.
  • Prenatal diagnosis is feasible;9 however, the unpredictability of the condition's severity cannot justify advising the termination of pregnancies if the fetus is affected.

Complications

  • Severe anemia may result in heart failure.
  • The development of gallbladder stones is a known complication of all hemolytic anemias.
  • Fulminating infection in patients with splenectomies and transmission of infections due to blood transfusions may occur.
  • Sudden worsening of anemia associated with viral infections (eg, Parvovirus B19) can occur, leading to a transient decrease in red cell production (ie, aplastic crisis).

Prognosis

  • Most patients maintain an adequate hematocrit level, especially after splenectomy; such patients live a relatively normal life.

Patient Education

  • Prevention of complications depends on educating the patient and the parents about the nature of the condition, its genetic nature, expected complications, and all precautions to avoid some of the preventable complications.

Miscellaneous

Medicolegal Pitfalls

  • The potential medicolegal pitfalls are those related to failure to diagnose pyruvate kinase (PK) deficiency in a neonate with jaundice. The condition may respond to phototherapy and, later, follow a mild clinical course. In such cases, the jaundice may be mistakenly attributed to other more common causes and the parents would not receive genetic counseling, increasing the chance that they will have other children with the same condition.
  • Conversely, if the condition is moderately severe and requires repeated blood transfusion, failure to recognize the value of splenectomy in reducing or even eliminating the need for transfusion may represent a liability.
 


More on Pyruvate Kinase Deficiency

Overview: Pyruvate Kinase Deficiency
Differential Diagnoses & Workup: Pyruvate Kinase Deficiency
Treatment & Medication: Pyruvate Kinase Deficiency
Follow-up: Pyruvate Kinase Deficiency
Multimedia: Pyruvate Kinase Deficiency
References
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References

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  2. Diez A, Gilsanz F, Martinez J, et al. Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression. Blood. Sep 1 2005;106(5):1851-6. [Medline].

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Further Reading

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Keywords

pyruvate kinase deficiency, PK deficiency, PKD, congenital nonspherocytic hemolytic anemia type II, CNSHA type II, hereditary spherocytosis, HS, adenosine triphosphate, ATP, hemolysis, 2, 3-diphosophoglycerate, 2, 3-DPG, PK-deficient reticulocytes, bilirubin level, anemia, idiopathic thrombocytopenic purpura, ITP, immune hemolysis, anaerobic glycolytic pathway, lactate, hemoglobin-oxygen dissociation curve, splenectomy, hyperbilirubinemia, nonimmune hydrops fetalis, jaundice, splenomegaly, gallbladder stones, exercise tolerance, fulminating infections

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Contributor Information and Disclosures

Author

Hassan M Yaish, MD, Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology Services, Medical Director, Mountain States Hemophilia and Thrombophilia Treatment Center; Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center
Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society, and New York Academy of Sciences
Disclosure: Nothing to disclose.

Medical Editor

Gary R Jones, MD, Associate Medical Director, Clinical Development, Berlex Laboratories
Gary R Jones, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

James L Harper, MD, Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center
James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Helen SL Chan, MBBS, FRCP(C), FAAP, Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Canada
Helen SL Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD, King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine
Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

 
 
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