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Cystic kidneys associated with connective tissue disorders
B S Kaplan1, P Kaplan, A Kessler
1Department of Pediatrics, The Childrens's Hospital of Philadelphia, University of Pennsylvania, Philadelphia 19104, USA.
American Journal of Medical Genetics
|March 17, 1997
Summary
Polycystic kidneys can occur in children with connective tissue disorders, not just inherited polycystic kidney disease (PKD). Further research is needed to understand these associations.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Connective Tissue Disorders
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited kidney disorder.
- Cystic kidneys can also manifest in various genetic syndromes, including tuberous sclerosis and Ehlers-Danlos syndrome.
- Distinguishing these conditions from ADPKD solely by imaging can be challenging.
Observation:
- Four children presented with cystic kidneys without a family history of PKD.
- One child had osteogenesis imperfecta type IV.
- Two children exhibited features of mild Ehlers-Danlos syndrome, and the fourth had inguinal hernias and undescended testes.
Findings:
- The study observed a potential association between cystic kidneys and connective tissue dysplasias in children.
- These cases suggest that polycystic kidneys might be a feature of certain connective tissue disorders.
- The observed cases did not fit the typical presentation of autosomal dominant polycystic kidney disease.
Implications:
- This finding broadens the differential diagnosis for pediatric cystic kidney disease.
- It highlights the importance of considering connective tissue disorders in children with unexplained cystic kidneys.
- Further investigation is warranted to confirm the link and elucidate potential genetic or developmental pathways involved.