PKDeep

Faculty Hospital of Palacky University

Institutional data

Institution: Faculty Hospital of Palacky University

Country: Czech Republic

Website: www.fnol.cz


Department: Faculty Hospital of Palacky University

Website: www.fnol.cz

Department e-mail: dagmar.pospisilova@fnol.cz

Department phone: +420 58844401; +410 58844403

Contact persons: Dagmar Pospisilova, Barbara Ludikova, Paula Koralkova

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: 9

Number of PKD pediatric patients (<18 years): 6

NNumber of PKD pediatric patients with genetic analysis performed: 6

Number of PKD pediatric patients with genetic analysis performed: 6

Number of PKD adult patients (≥ 18 years): 3

Number of PKD patients adults with genetic analysis performed: 3


2018

Total number of PKD patients in follow-up: 9

Number of PKD pediatric patients (<18 years): 6

NNumber of PKD pediatric patients with genetic analysis performed: 6

Number of PKD pediatric patients with genetic analysis performed: 6

Number of PKD adult patients (≥ 18 years): 3

Number of PKD patients adults with genetic analysis performed: 3


2017

Total number of PKD patients in follow-up: 9

Number of PKD pediatric patients (<18 years): 6

NNumber of PKD pediatric patients with genetic analysis performed: 6

Number of PKD pediatric patients with genetic analysis performed: 6

Number of PKD adult patients (≥ 18 years): 3

Number of PKD patients adults with genetic analysis performed: 3


PKD diagnosis: services offered

Perform PK enzyme activity assay: Yes

Total number of PK deficient cases diagnosed in the last 25 years: 14

Number of PK deficient cases diagnosed in the last 25 years from center's country: 12

Number of PK deficient cases diagnosed at your centre in the last 25 years from other countries: 2

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

Turn-around-time?: 3 hours mínimum

Other RBC enzyme activity assays you performed: Adenosine deaminase, Adenylate kinase, Aldolase, Bisphosphoglycerate mutase, NADH-cytochrome b5 reductase, Glucose phosphate isomerase, Glucose-6-phosphate dehydrogenase, Gluthathione reductase, Hexokinase, Phosphofructokinase, Phosphoglycerate kinase, 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


Offer genetic counselling for PKD: No

Have prenatal diagnosis for PKD available: No