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

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