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[A case of familial bilateral polycystic kidney]
G Giaretto1, A Bonomi, G Gomirato
1Divisione di Pediatria, U.S.L. III, Ospedale Martini, Torino.
Insights
This study details a family with autosomal dominant polycystic kidney disease, affecting multiple males and one female across generations. It highlights the genetic inheritance patterns and discusses prevention strategies for this inherited kidney disorder.
Area of Science:
- Nephrology
- Medical Genetics
- Clinical Medicine
Background:
- Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder.
- It is characterized by the development of numerous cysts in the kidneys.
- ADPKD typically leads to kidney failure and has significant morbidity.
Observation:
- A 14-year-old patient presented with bilateral polycystic kidneys.
- The patient's father, three brothers, and a paternal aunt were also diagnosed with bilateral renal cystic dysplasia.
- A paternal uncle exhibited persistent hematuria without ultrasound evidence of renal cystic dysplasia.
Findings:
- The family's condition aligns with adult-type autosomal dominant polycystic renal dysplasia.
- The disease predominantly affects males within this family nucleus, with one female also impacted.
- This pattern suggests a potential X-linked or sex-influenced autosomal dominant inheritance, warranting further genetic investigation.
Implications:
- Understanding the specific inheritance pattern is crucial for genetic counseling and family planning.
- Early diagnosis and monitoring can help manage complications associated with ADPKD.
- Further research into the genetic basis of this family's presentation may reveal novel insights into ADPKD pathogenesis and prevention.
Abstract:
The paper describes a case of bilateral polycystic kidney in a 14-year-old whose father and 3 brothers are also affected by bilateral renal cystic dysplasia (as is a paternal aunt), while a paternal uncle is affected by constant hematuria with no ultrasound signs of renal cystic dysplasia. The case in question is an adult type of dominant autosomal polycystic renal dysplasia, affecting all the males in the family and also a female within the family nucleus. The case is described in the light of the most recent reports on the subject and the problem of prevention is also discussed.