Members

Centro Hospitalar e Universitario de Coimbra

Institutional data

Institution: Centro Hospitalar e Universitario de Coimbra

Country: Portugal

Website: https://www.chuc.min-saude.pt/


Department: Clinical Hematology

Website: http://chuc-hematologiaclinica.org/

Department e-mail: uhm@chuc.min-saude.pt

Department phone: 351239480370

Contact persons: Tabita Magalhães Maia, Celeste Bento, Leticia Ribeiro

Department activity: Clinical management, Diagnostic

Type of patients in Follow-up: Pediatrics, Adults

Diagnostic methodologies: Biochemical / Phenotyping, Genetics

Institution's activity

2022


2021


2020


2019

Total number of PKD patients in follow-up: 11


2018

Total number of PKD patients in follow-up: 11


2017


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 42

Number of PK deficient cases diagnosed in the last 25 years from center's country: 31

Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 11

Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)

Turn-around-time?: One week

Other RBC enzyme activity assays you performed: Adenosine deaminase, Aldolase, Bisphosphoglycerate mutase, Glucose phosphate isomerase, Glucose-6-phosphate dehydrogenase, Gluthathione reductase, Hexokinase, Phosphofructokinase, Phosphoglycerate kinase, Pyrimidine-5’-nucleotidase, Triosephosphate isomerase

Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980).

Externalize PK activity quantitative assay: No


Perform PKLR genetic characterization: Yes

Method used for PKLR genetic characterization: Sanger, NGS

Turn-around-time?: 20 days


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: Yes