A Perspective on a Urine-Derived Kidney Tubuloid Biobank from Patients with Hereditary Tubulopathies
Autor: | Frans Schutgens, Maarten B. Rookmaaker, Marianne C. Verhaar |
---|---|
Rok vydání: | 2021 |
Předmět: | |
Zdroj: | Tissue Eng Part C Methods |
ISSN: | 1937-3392 1937-3384 |
Popis: | Inherited kidney tubulopathies comprise a group of rare diseases with a significant societal impact, as lifelong treatment is often required and no therapies are available to prevent progression of renal damage. Diagnosis of inherited tubulopathies has improved with the advances of next generation sequencing. However, difficulties remain, such as a lack of genotype-phenotype correlation and unknown pathogenicity of newly identified variants. In addition, treatment remains mainly symptomatic. Both diagnosis and treatment can be improved by addition of |
Databáze: | OpenAIRE |
Externí odkaz: |