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Published on: June 23, 2015
[Genetic screening is essential in polycystic kidney disease: It is never too late!]
Clémence Petit1, Diego Cantarovich2, Virginie Langs3
1Service de néphrologie et d'immunologie clinique, CHU de Nantes, France; CRTI, ITUN, Université de Médecine de Nantes, France.
Insights
Genetic screening is crucial for diagnosing polycystic kidney disease (PKD), even in elderly patients with end-stage renal disease. Early genetic diagnosis aids in family history, treatment decisions, and managing extrarenal manifestations.
Area of Science:
- Nephrology
- Medical Genetics
Background:
- Polycystic kidney disease (PKD) is a common genetic disorder causing chronic kidney disease.
- While PKD1 and PKD2 mutations are frequent, other genetic causes exist, often with extrarenal features.
Observation:
- A 70-year-old patient with end-stage renal disease due to polycystic kidney disease underwent genetic analysis.
- Genetic testing revealed oral-facial-digital syndrome type 1 (OFDS1).
Findings:
- Genetic analysis is not routinely performed for polycystic kidney disorders but is essential for accurate diagnosis.
- Identifying the specific genetic cause impacts treatment strategies, prognosis, and understanding of familial transmission.
Implications:
- This case highlights the importance of genetic screening for polycystic kidney disease, irrespective of age or disease stage.
- Genetic diagnosis is vital for affected individuals and their families, enabling comprehensive care for both renal and extrarenal manifestations.
Abstract:
In France, numerous patients suffered from chronic kidney disease on polycystic kidney disorder. If PKD1 and PKD2 inactivating mutations are the most prevalent, several other genetic polycystic kidney diseases are responsible for similar kidney features and may be associated with severe extrarenal phenotypes. Genetic analysis in front of a polycystic disorder is not systematic, but is essential to assess the genetic diagnosis, discuss the intensity of treatment (vaptan) and precise the prognostic and the transmission of the phenotype. We detailed the case of a patient with end stage renal disease due to a polycystic kidney disease. Genetic analysis at 70 year of age revealed an oral-facial-digital syndrome type 1. The diagnosis had an important impact in the familial history and to attach the extrarenal phenotype to the syndrome. Our case illustrates that, in front of a polycystic kidney disease (even in aged patients with end stage renal disease) genetic screening is essential, for the propositus and their family and to take care of the extrarenal manifestations.
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