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New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report
- Source :
- Clinical Medicine Insights: Pediatrics, Vol 15 (2021), Clinical Medicine Insights. Pediatrics
- Publication Year :
- 2021
- Publisher :
- SAGE Publishing, 2021.
-
Abstract
- Background:Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-months old female with a history of renal cysts and a PAX2 mutation.Case presentation:The patient presented with a prenatal diagnosis of Potter sequence and a postnatal diagnosis of renal cysts. An ultrasound at 20 weeks gestation revealed right renal agenesis and possible left renal dysplasia. Post natal genetic analyses identified a novel mutation in PAX2.Conclusion:Cystic kidney disease is often underdiagnosed due to its variable expressivity and wide range of clinical manifestations; PAX2 genetic screening should be considered for all patients with CAKUT.
- Subjects :
- 0301 basic medicine
Pediatrics
medicine.medical_specialty
030232 urology & nephrology
Prenatal diagnosis
urologic and male genital diseases
End stage renal disease
03 medical and health sciences
Cystic kidney disease
0302 clinical medicine
children
medicine
Polycystic kidney disease
case report
papillorenal syndrome
CAKUT
Genetic testing
medicine.diagnostic_test
PAX2
business.industry
General Engineering
lcsh:RJ1-570
lcsh:Pediatrics
medicine.disease
Renal dysplasia
Penetrance
030104 developmental biology
congenital anomalies of the kidney and urinary tract
business
Potter sequence
Subjects
Details
- Language :
- English
- ISSN :
- 11795565
- Volume :
- 15
- Database :
- OpenAIRE
- Journal :
- Clinical Medicine Insights: Pediatrics
- Accession number :
- edsair.doi.dedup.....861bb042e8311b78b8deb332c992bba5