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Inicio Medicina Clínica (English Edition) Consensus document for the diagnosis and treatment of pyruvate kinase deficiency
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Vol. 157. Issue 5.
Pages 253.e1-253.e8 (September 2021)
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Vol. 157. Issue 5.
Pages 253.e1-253.e8 (September 2021)
Consensus statement
Consensus document for the diagnosis and treatment of pyruvate kinase deficiency
Documento de consenso para el diagnóstico y tratamiento del déficit de piruvato quinasa
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Marta Moradoa,
Corresponding author
marta.morado@salud.madrid.org

Corresponding author.
, Ana María Villegasb, Silvia de la Iglesiac, Jorge Martínez-Nietob, Rafael del Orbe Barretod, David Beneiteze, Eduardo Salidof, on behalf of the Spanish Erythropathology Group
a Servicio de Hematología y Hemoterapia, Hospital Universitario La Paz, Madrid, Spain
b Servicio de Hematología y Hemoterapia, Hospital Universitario Clínico San Carlos, Madrid, Spain
c Servicio de Hematología y Hemoterapia, Hospital Universitario Doctor Negrín, Las Palmas de Gran Canaria, Spain
d Servicio de Hematología y Hemoterapia, Hospital Universitario de Cruces, Baracaldo, Vizcaya, Spain
e Servicio de Hematología y Hemoterapia, Hospital Universitario Vall d’Hebron, Barcelona, Spain
f Servicio de Hematología y Hemoterapia, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
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Figures (1)
Tables (4)
Table 1. Clinical manifestations of PK deficiency.
Table 2. Genotype-phenotype correlation.
Table 3. Pros and cons of enzymatic and genetic diagnostic methods.
Table 4. Factors that indicate response to splenectomy.
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Additional material (1)
Abstract

Pyruvate Kinase deficiency (PKD) is the second most frequent enzymopathy and the most common cause of chronic hereditary non-spherocytic haemolytic anaemia. Its global prevalence is underestimated due to low clinical suspicion of mild cases, associated with difficulties in the performance and interpretation of PK enzymatic activity assays. With the advent of next generation sequencing techniques, a better diagnostic approach is achieved. Treatment remains based on red blood cell transfusions and splenectomy, with special attention to iron overload, not only in transfusion-dependent patients. Nowadays, allogeneic hematopoietic stem cell transplantation is the only curative treatment, recommended only in selected cases of severely affected patients with an HLA-identical donor. Novel pharmacological and gene therapies are in clinical trials, with promising results. In this article, the Spanish Erythropathology Group reviews the current situation of PKD, paying special attention to the usefulness of different diagnostic techniques and to actual and emerging treatments.

Keywords:
Pyruvate kinase deficit
Chronic congenital haemolytic anaemia
Diagnosis
Treatment
Resumen

El déficit de piruvato quinasa (PK) es la segunda enzimopatía más frecuente y la principal causa de anemia hemolítica congénita crónica no esferocítica. Su prevalencia está infraestimada por la baja sospecha clínica de los casos leves, las dificultades del correcto diagnóstico enzimático y la gran variedad de diagnósticos diferenciales. Los avances en las técnicas moleculares están permitiendo mejorar notablemente el diagnóstico. El tratamiento continúa basado en soporte transfusional y esplenectomía, siendo necesario la vigilancia y tratamiento de la sobrecarga férrica en todos los pacientes, trasfundidos o no. Actualmente, el único tratamiento curativo es el trasplante alogénico de progenitores hematopoyéticos, indicado en los casos graves con donante idéntico. Las nuevas terapias farmacológicas y génicas parecen prometedoras. En este artículo, el Grupo de Español de Eritropatología, realiza una actualización de la situación actual de esta enfermedad, con especial atención a los métodos diagnósticos y a los tratamientos actuales y futuros.

Palabras clave:
Déficit piruvato quinasa
Anemia hemolítica congénita crónica
Diagnóstico
Tratamiento

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