Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case
Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disease, characterized by enlarged kidneys with numerous cysts, high blood pressure, and a variety of extrarenal complications. This disease is a significant cause of renal failure and re...
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BMC
2024-09-01
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| Series: | BMC Nephrology |
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| Online Access: | https://doi.org/10.1186/s12882-024-03747-z |
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| author | Sylvain Bodard Rim Nabbout Olivier Hélénon Bertrand Knebelmann |
| author_facet | Sylvain Bodard Rim Nabbout Olivier Hélénon Bertrand Knebelmann |
| author_sort | Sylvain Bodard |
| collection | DOAJ |
| description | Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disease, characterized by enlarged kidneys with numerous cysts, high blood pressure, and a variety of extrarenal complications. This disease is a significant cause of renal failure and requires accurate differentiation from other cystic kidney diseases, especially when family history does not clearly indicate ADPKD. This is crucial due to differences in prognosis, treatment, and familial implications. Advanced molecular genetics and imaging techniques are employed to diagnose and assess the prognosis of patients and their families. Case presentation The case study revolves around three patients from the same family—two sisters and one daughter—referred to a nephrology department for ADPKD management. The initial proband, a 42-year-old woman, experienced abdominal discomfort leading to an ultrasound that suggested ADPKD. However, MRI findings indicated standard-sized kidneys with bilateral parapelvic cysts, and no genetic markers for ADPKD were found. Her sister, presenting with controlled hypertension and similar ultrasound findings, also had her initial ADPKD diagnosis refuted by MRI and genetic testing, which revealed no significant mutations. The daughter, however, exhibited a different scenario with enlarged kidneys and multiple cysts characteristic of early-stage ADPKD. Genetic testing confirmed a deleterious PKD1 mutation, suggesting a de novo mutation, as her father showed no signs of the disease. Conclusion This study highlights the complexity and necessity of thorough diagnostic processes in suspected ADPKD cases to prevent misdiagnosis. The initial symptoms and imaging might misleadingly suggest ADPKD, as seen in the cases of the two older patients. Still, further detailed imaging and genetic analyses revealed no ADPKD, preventing inappropriate treatment and stress. In contrast, the younger patient's distinctive clinical and genetic profile confirmed ADPKD, illustrating the variability within even closely related individuals. Such detailed assessments are crucial in guiding correct treatment decisions and providing accurate familial counseling, emphasizing the importance of considering a broader spectrum of renal cystic disorders before confirming a diagnosis of ADPKD. |
| format | Article |
| id | doaj-art-1dbed85ed7444ff68722cbbf9cd087f5 |
| institution | Kabale University |
| issn | 1471-2369 |
| language | English |
| publishDate | 2024-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Nephrology |
| spelling | doaj-art-1dbed85ed7444ff68722cbbf9cd087f52024-12-15T12:07:18ZengBMCBMC Nephrology1471-23692024-09-012511510.1186/s12882-024-03747-zUnusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the caseSylvain Bodard0Rim Nabbout1Olivier Hélénon2Bertrand Knebelmann3Department of Radiology, Memorial Sloan Kettering Cancer CenterService de Néphrologie-Dialyse Adultes, AP-HP-Centre, Université Paris Cité, Hôpital Necker Enfants MaladesAP-HP-Centre, Université de Paris Cité, Hôpital Necker Enfants MaladesService de Néphrologie-Dialyse Adultes, AP-HP-Centre, Université Paris Cité, Hôpital Necker Enfants MaladesAbstract Background Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disease, characterized by enlarged kidneys with numerous cysts, high blood pressure, and a variety of extrarenal complications. This disease is a significant cause of renal failure and requires accurate differentiation from other cystic kidney diseases, especially when family history does not clearly indicate ADPKD. This is crucial due to differences in prognosis, treatment, and familial implications. Advanced molecular genetics and imaging techniques are employed to diagnose and assess the prognosis of patients and their families. Case presentation The case study revolves around three patients from the same family—two sisters and one daughter—referred to a nephrology department for ADPKD management. The initial proband, a 42-year-old woman, experienced abdominal discomfort leading to an ultrasound that suggested ADPKD. However, MRI findings indicated standard-sized kidneys with bilateral parapelvic cysts, and no genetic markers for ADPKD were found. Her sister, presenting with controlled hypertension and similar ultrasound findings, also had her initial ADPKD diagnosis refuted by MRI and genetic testing, which revealed no significant mutations. The daughter, however, exhibited a different scenario with enlarged kidneys and multiple cysts characteristic of early-stage ADPKD. Genetic testing confirmed a deleterious PKD1 mutation, suggesting a de novo mutation, as her father showed no signs of the disease. Conclusion This study highlights the complexity and necessity of thorough diagnostic processes in suspected ADPKD cases to prevent misdiagnosis. The initial symptoms and imaging might misleadingly suggest ADPKD, as seen in the cases of the two older patients. Still, further detailed imaging and genetic analyses revealed no ADPKD, preventing inappropriate treatment and stress. In contrast, the younger patient's distinctive clinical and genetic profile confirmed ADPKD, illustrating the variability within even closely related individuals. Such detailed assessments are crucial in guiding correct treatment decisions and providing accurate familial counseling, emphasizing the importance of considering a broader spectrum of renal cystic disorders before confirming a diagnosis of ADPKD.https://doi.org/10.1186/s12882-024-03747-zKidneyCystsPolycystic kidneyAutosomal dominantMutation |
| spellingShingle | Sylvain Bodard Rim Nabbout Olivier Hélénon Bertrand Knebelmann Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case BMC Nephrology Kidney Cysts Polycystic kidney Autosomal dominant Mutation |
| title | Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case |
| title_full | Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case |
| title_fullStr | Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case |
| title_full_unstemmed | Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case |
| title_short | Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case |
| title_sort | unusual familial cystic kidney disease combining fine radiologic and genetic evaluation to solve the case |
| topic | Kidney Cysts Polycystic kidney Autosomal dominant Mutation |
| url | https://doi.org/10.1186/s12882-024-03747-z |
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