Pyruvate kinase deficiency

from Wikipedia, the free encyclopedia
Classification according to ICD-10
D55.2 Anemia due to disorders of glycolytic enzymes

Anemia (due to): - hemolytic, non-spherocytic (hereditary), type II - hexokinase deficiency - pyruvate kinase [PK] deficiency - triose phosphate isomerase deficiency

ICD-10 online (WHO version 2019)

The pyruvate kinase deficiency (PK) , more precisely pyruvate kinase deficiency of the erythrocytes or hemolytic anemia due to deficiency of the erythrocytic pyruvate kinase, is a rare congenital disorder of glycolysis with the main characteristic of hemolytic anemia .

The disease is considered to be the most common cause of congenital, non- spherocytic hemolytic anemia.

The first description comes from the year 1961 by the American William N. Valentine and coworkers.

distribution

The frequency is given as 1 in 20,000, inheritance is autosomal - recessive . The frequency is said to be higher among the Amish .

root cause

Of the disease are mutations in PKLR - gene on chromosome 1 locus q22 based on which the activity of pyruvate kinase in the red blood cells interfere with reduced ATP and increased 2,3-diphosphoglycerate (2,3-DPG) -mirror in erythrocytes and probably because filtering (selective sequestration) of the irregular young erythrocytes, especially the reticulocytes , in the spleen leads to chronic hemolytic anemia.

To date, more than 190 causative PKLR mutations have been described.

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on signs of hemolysis, measurement of enzyme activity and is confirmed by detection of the PKLR gene mutation.

Differential diagnosis

Pyruvate kinase deficiency can occur secondarily in leukemia , myelodysplastic syndromes, and sideroblastic anemia .

The glucose-6-phosphate dehydrogenase deficiency must be distinguished .

therapy

Symptomatic treatment is usually carried out with blood transfusions ; in severe cases, a splenectomy can also reduce the need for transfusions. A stem cell transplant would have to be performed for a causal treatment .

Prospect of healing

The prognosis depends, among other things, on the severity of the anemia.

In animals

A pyruvate kinase deficiency has also been described in the Abyssinian cat .

literature

  • S. van Straaten, M. Bierings, P. Bianchi, K. Akiyoshi, H. Kanno, I. Badell Serra, J. Chen, X. Huang, E. van Beers, S. Ekwattanakit, T. Güngör, WA Kors, F. Smiers, R. Raymakers, L. Yanez, J. Sevilla, W. van Solinge, JC Segovia, R. Van Wijk: Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency. In: Haematologica. [Electronic publication before printing] December 2017, doi: 10.3324 / haematol.2017.177857 , PMID 29242305 .
  • R. Huisjes, WW van Solinge, MD Levin, R. van Wijk, JA Riedl: Digital microscopy as a screening tool for the diagnosis of hereditary hemolytic anemia. In: International journal of laboratory hematology. [Electronic publication before printing] November 2017, doi: 10.1111 / ijlh.12758 , PMID 29090523 .
  • RF Grace, A. Zanella, EJ Neufeld, DH Morton, S. Eber, H. Yaish, B. Glader: Erythrocyte pyruvate kinase deficiency: 2015 status report. In: American Journal of Hematology . Volume 90, number 9, September 2015, pp. 825-830, doi: 10.1002 / ajh.24088 , PMID 26087744 , PMC 5053227 (free full text) (review).
  • A. Rüfer, WA Wuillemin: The spleen in non-malignant haematological diseases. In: Therapeutic review. Revue therapeutique. Vol. 70, No. 3, March 2013, pp. 157-162, doi: 10.1024 / 0040-5930 / a000384 , PMID 23454562 (Review).

Individual evidence

  1. ↑ Entry on pyruvate kinase deficiency in Flexikon , a wiki from DocCheck
  2. ↑ a b c d e f g Hemolytic anemia due to deficiency of erythrocyte pyruvate kinase. In: Orphanet (Rare Disease Database).
  3. ↑ WN Valentine, KR Tanaka, S. Miwa: A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia. In: Transactions of the Association of American Physicians. Vol. 74, 1961, pp. 100-110, PMID 13924348 .
  4. ↑ MedlinePlus
  5. ↑ Pyruvate kinase deficiency.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ G. Canu, M. De Bonis, A. Minucci, E. Capoluongo: Red blood cell PK deficiency: An update of PK-LR gene mutation database. In: Blood cells, molecules & diseases. Vol. 57, March 2016, pp. 100-109, doi: 10.1016 / j.bcmd.2015.12.009 , PMID 26832193 (Review).
  7. ↑ emedicine.medscape
  8. ↑ a b Miamed
  9. ^ II Sedano, B. Röthlisberger, AR Huber: Hereditary enzyme defects of the erythrocytes: glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency. In: Therapeutic review. Revue therapeutique. Vol. 63, No. 1, January 2006, pp. 47-56, doi: 10.1024 / 0040-5930.63.1.47 , PMID 16450734 (review).
  10. ↑ MF Zahid, AP Bains: Rapidly fatal Klebsiella pneumoniae sepsis in a patient with pyruvate kinase deficiency and asplenia. In: Blood. Vol. 130, No. 26, 12 2017, p. 2906, doi: 10.1182 / blood-2017-08-803841 , PMID 29284613 .

Web links