Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease: Case Report
<b>Background and Clinical Significance:</b> Polycystic kidney disease (PKD) is the most common inherited kidney condition, affecting approximately 500,000 individuals in the US. It causes fluid-filled cysts to develop throughout the kidneys, leading to decreased kidney function. Autosom...
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2025-04-01
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| author | Elitsa Gyokova Eleonora Hristova-Atanasova Elizabeth Odumosu Antonia Andreeva |
| author_facet | Elitsa Gyokova Eleonora Hristova-Atanasova Elizabeth Odumosu Antonia Andreeva |
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| description | <b>Background and Clinical Significance:</b> Polycystic kidney disease (PKD) is the most common inherited kidney condition, affecting approximately 500,000 individuals in the US. It causes fluid-filled cysts to develop throughout the kidneys, leading to decreased kidney function. Autosomal dominant polycystic kidney disease (ADPKD) is the more prevalent form, subdivided into the <i>PKD1</i> and <i>PKD2</i> variants. <i>PKD1</i> variants typically result in more severe symptoms and an earlier need for dialysis compared to <i>PKD2.</i> A prenatal diagnosis of ADPKD is rare due to its late-onset manifestations, but early detection can be crucial for management and family counseling. <b>Case Presentation:</b> A 24-year-old woman, during her first pregnancy, presented for her first prenatal ultrasound at 22 + 2 weeks gestation. The ultrasound revealed an increased echogenicity of the renal parenchyma in the left kidney, with pelvic dystopia, while the right kidney appeared normal. Follow-up scans showed significant progression, with both kidneys exhibiting thinning parenchyma and cyst formation. The baby was delivered via an elective cesarean section at 38 weeks, and a postnatal ultrasound confirmed ADPKD. Genetic testing identified a heterozygous variant of the <i>PKD1</i> gene, <i>NM_001009944.3 (PKD1):c.9157G>A p.(Ala3053Thr)</i>, classified as likely pathogenic. The baby displayed electrolyte abnormalities but improved after a week of hospitalization. <b>Conclusions:</b> This case highlights an unusual early presentation of ADPKD in a fetus with no family history of the disease. A prenatal diagnosis through ultrasounds and genetic testing can aid in early detection and management, providing valuable information for family counseling. Regular monitoring and genetic identification are essential for managing ADPKD and improving patient outcomes. |
| format | Article |
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| language | English |
| publishDate | 2025-04-01 |
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| spelling | doaj-art-f13b8f5fda734a6a91b56a2b5bff9a192025-06-25T14:24:11ZengMDPI AGReports2571-841X2025-04-01825610.3390/reports8020056Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease: Case ReportElitsa Gyokova0Eleonora Hristova-Atanasova1Elizabeth Odumosu2Antonia Andreeva3Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University-Pleven, 5800 Pleven, BulgariaDepartment of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, 4002 Plovdiv, BulgariaFaculty of Medicine, Medical University-Pleven, 5800 Pleven, BulgariaFaculty of Medicine, Medical University-Pleven, 5800 Pleven, Bulgaria<b>Background and Clinical Significance:</b> Polycystic kidney disease (PKD) is the most common inherited kidney condition, affecting approximately 500,000 individuals in the US. It causes fluid-filled cysts to develop throughout the kidneys, leading to decreased kidney function. Autosomal dominant polycystic kidney disease (ADPKD) is the more prevalent form, subdivided into the <i>PKD1</i> and <i>PKD2</i> variants. <i>PKD1</i> variants typically result in more severe symptoms and an earlier need for dialysis compared to <i>PKD2.</i> A prenatal diagnosis of ADPKD is rare due to its late-onset manifestations, but early detection can be crucial for management and family counseling. <b>Case Presentation:</b> A 24-year-old woman, during her first pregnancy, presented for her first prenatal ultrasound at 22 + 2 weeks gestation. The ultrasound revealed an increased echogenicity of the renal parenchyma in the left kidney, with pelvic dystopia, while the right kidney appeared normal. Follow-up scans showed significant progression, with both kidneys exhibiting thinning parenchyma and cyst formation. The baby was delivered via an elective cesarean section at 38 weeks, and a postnatal ultrasound confirmed ADPKD. Genetic testing identified a heterozygous variant of the <i>PKD1</i> gene, <i>NM_001009944.3 (PKD1):c.9157G>A p.(Ala3053Thr)</i>, classified as likely pathogenic. The baby displayed electrolyte abnormalities but improved after a week of hospitalization. <b>Conclusions:</b> This case highlights an unusual early presentation of ADPKD in a fetus with no family history of the disease. A prenatal diagnosis through ultrasounds and genetic testing can aid in early detection and management, providing valuable information for family counseling. Regular monitoring and genetic identification are essential for managing ADPKD and improving patient outcomes.https://www.mdpi.com/2571-841X/8/2/56autosomal dominant polycystic kidney disease (ADPKD)genetic kidney diseaseprenatal diagnosisgenetic counselingrenal cysts |
| spellingShingle | Elitsa Gyokova Eleonora Hristova-Atanasova Elizabeth Odumosu Antonia Andreeva Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease: Case Report Reports autosomal dominant polycystic kidney disease (ADPKD) genetic kidney disease prenatal diagnosis genetic counseling renal cysts |
| title | Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease: Case Report |
| title_full | Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease: Case Report |
| title_fullStr | Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease: Case Report |
| title_full_unstemmed | Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease: Case Report |
| title_short | Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease: Case Report |
| title_sort | prenatal diagnosis of autosomal dominant polycystic kidney disease case report |
| topic | autosomal dominant polycystic kidney disease (ADPKD) genetic kidney disease prenatal diagnosis genetic counseling renal cysts |
| url | https://www.mdpi.com/2571-841X/8/2/56 |
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