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Renal cystic disease and associated ciliopathies
Karl O Kagan1, Andreas Dufke, Ulrich Gembruch
1aDepartment of Obstetrics and Gynaecology bInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, Tübingen cDepartment of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
Insights
Prenatal renal cystic diseases are strongly linked to ciliopathies, a group of genetic disorders affecting multiple organs. Understanding these conditions is crucial for accurate prenatal diagnosis and future treatment development.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Nephrology
Background:
- Renal cystic diseases manifest during prenatal development.
- Ciliopathies are a significant group of genetic disorders with a strong association with cystic kidney disease.
- These conditions often present as multisystem diseases with hepatorenal fibrocystic characteristics.
Purpose of the Study:
- To review prenatal disorders linked to renal cystic disease.
- To emphasize the robust association between renal cystic disease and ciliopathies.
- To provide insights for prenatal diagnosis and genetic counseling.
Main Methods:
- Literature review of genetic disorders causing prenatal renal cystic disease.
- Analysis of the genetic basis of ciliopathies presenting with cystic kidneys.
- Synthesis of current knowledge on pathophysiology and clinical presentation.
Main Results:
- Numerous genes cause ciliopathies that present with cystic kidney disease.
- Autosomal dominant polycystic kidney disease is the most common single-gene ciliopathy.
- Other examples include autosomal recessive polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome, affecting approximately 1 in 2000 people.
Conclusions:
- Understanding the genetic origins of renal cystic disease is vital for prenatal diagnosis and parental counseling.
- Further research into the pathophysiology of these disorders may lead to novel therapeutic strategies.
- Classifying these as multisystem diseases aids in comprehensive patient management.
Purpose Of Review:
To review disorders that are associated with renal cystic disease during prenatal life and to highlight the strong association between renal cystic disease and ciliopathies.
Recent Findings:
There are numerous causative genes for ciliopathies that can present with cystic kidney disease. In the group of single gene ciliopathies, autosomal dominant polycystic kidney disease is by far the most prevalent one. Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Joubert syndrome and related disorders as well as X-linked orofaciodigital syndrome type 1, respectively. The prevalence of these inherited disorders sums up to about in 1 : 2000 people. These disorders with their hepatorenal fibrocystic character should be classified as multisystem diseases.
Summary:
Understanding of the origin of renal cystic disease and associated disorders is important to make the appropriate prenatal diagnosis and for counseling affected parents. In the future, understanding of the pathophysiology may help to develop new treatment strategies.
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