ArticleAnnals of medicine and surgery (2012)2026
Whole-exome sequencing reveals GRHPR gene mutation in a 4-year-old girl with chronic kidney disease: a case report.
Article in Annals of medicine and surgery (2012), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Whole exome sequencing identified a novel compound heterozygous mutation ofFrontiers in pediatrics · 2026Article
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6 authors.
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Abstract
Introduction and importance: Chronic kidney disease (CKD) is recognized as one of the leading causes of human death. This case highlights the importance of whole-exome sequencing (WES) and genetic diagnosis in families. Case Presentation: A 4-year-old girl (subject) was diagnosed with CKD along with her father, grandfather, and grandmother. The subject was first evaluated at 4 years of age because of black urine problem. On early diagnosis, it was kidney stones. She was suspected to be affected with kidney disorder by ultrasound and is being evaluated for the presence genetic variations by WES. We identified a missense variation in Clinical discussion: Genetic diagnoses are essential for identifying diseases, which aid in early diagnosis and control to spread within families. This case highlights the value of advanced genetic testing in nephrology for precision diagnosis and family risk assessment. Conclusion: A multidisciplinary approach and timely intervention in CKD are vital to prevent complications in families.
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