PKDeep

Hospital Infantil Universitario Niño Jesús

Institutional data

Institution: Hospital Infantil Universitario Niño Jesús

Country: Spain

Website: http://www.madrid.org/cs/Satellite?pagename=HospitalNinoJesus/Page/HNIJ_home


Department: Hemato Oncología Pediátrica

Website: http://www.madrid.org/cs/Satellite?pagename=HospitalNinoJesus/Page/HNIJ_home

Department phone: +34 915035938

Contact persons: Julián Sevilla

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


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: No

Method used to perform PK activity assay?:

Externalize PK activity quantitative assay: Yes


Perform PKLR genetic characterization: No

Externalize PKLR genetic characterization: Yes


Offer genetic counselling for PKD: Yes

Have prenatal diagnosis for PKD available: No