PKDeep
Hôpital Universitaire Des Enfants Reine Fabiola
Institutional data
Institution: Hôpital Universitaire Des Enfants Reine Fabiola
Country: Belgium
Website: www.huderf.be
Department: Hémato-oncologie pédiatrique
Website: www.huderf.be
Department e-mail: sarah.wambacq@huderf.be
Department phone: 3224772678
Contact persons: Sarah Wambacq, Alina Ferster, Laurence Dedeken
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Pediatrics
Is transition to adulthood covered? No
Diagnostic methodologies: Biochemical / Phenotyping, Genetics
Institution's activity
2024
2023
2022
2021
2020
Total number of PKD patients in follow-up: 2
Number of PKD pediatric patients (<18 years): 2
NNumber of PKD pediatric patients with genetic analysis performed: 2
Number of PKD pediatric patients with genetic analysis performed: 2
2019
Total number of PKD patients in follow-up: 2
Number of PKD pediatric patients (<18 years): 2
NNumber of PKD pediatric patients with genetic analysis performed: 2
Number of PKD pediatric patients with genetic analysis performed: 2
2018
Total number of PKD patients in follow-up: 1
Number of PKD pediatric patients (<18 years): 1
NNumber of PKD pediatric patients with genetic analysis performed: 1
Number of PKD pediatric patients with genetic analysis performed: 1
2017
Total number of PKD patients in follow-up: 1
Number of PKD pediatric patients (<18 years): 1
NNumber of PKD pediatric patients with genetic analysis performed: 1
Number of PKD pediatric patients with genetic analysis performed: 1
PKD diagnosis: services offered
Perform PK enzyme activity assay: Yes
Total number of PK deficient cases diagnosed in the last 25 years: 4
Method used to perform PK activity assay?: Spectrophotometric assay (Beutler 1980)
Other RBC enzyme activity assays you performed: Glucose phosphate isomerase, Glucose-6-phosphate dehydrogenase, Hexokinase
Method to perform G6PD activity assay: Spectrophotometric assay (Beutler 1980).
Externalize PK activity quantitative assay: Yes
Perform PKLR genetic characterization: Yes
Externalize PKLR genetic characterization: Yes
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes