AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE ABOUT A NEW CASE REPORT
Journal: International Journal of Advanced Research (Vol.12, No. 04)Publication Date: 2024-04-18
Authors : El Harcha Kamal Aouragh Ayoub Taheri Hafssa Saadi Hanane; Mimouni Ahmed;
Page : 563-566
Keywords : ;
Abstract
We present the case of a 25-year-old woman gravida 2, para 01 who presented for childbirth at 40 weeks of gestation. Which Fetal Anatomy Ultrasound showed enlarged, hyperechoic fetal kidneys and a normal amniotic fluid index. Karyotyping was done on umbilical cord blood to look for mutations in the PKHD1 gene for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was found to be maternally inherited. A second previously unknown de novo mutation, c.5909-2delA, was discovered. This mutation is likely pathogenic because it affects the canonical splice site. Our case emphasizes PKHD1 allelic heterogeneity and the importance of prenatal genetic testing in a setting where many other genetic etiologies can phenocopy ARPKD.
Other Latest Articles
- A COMPARATIVE STUDY OF TWO HYPOFRACTIONATED EXTERNAL BEAM RADIATION THERAPY SCHEDULES IN SYMPTOM PALLIATION IN UNRESECTABLE CARCINOMA GALLBLADDER
- Effect of Taila Dahana in Pilonidal Sinus After DeRoofing and Debridement - A Case Study
- A Comprehensive Review on Indian Medicinal Plants Having Antipyretic Properties
- Chronic Calcified Pancreatitis with Type 3C DM: A Complex Case Report
- Navigating Breakthroughs: A Thorough Investigation of Vaccine Failure Rates and Clinical Outcomes in COVID-19 Breakthrough Scenarios
Last modified: 2024-05-13 20:51:23