Publications by authors named "Daniela Maria Allmer"
Article Synopsis
- Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder and a major reason for needing kidney transplants globally.
- The progression of the disease varies greatly among individuals due to genetic and environmental factors, with specific tools like the PROPKD score and Mayo Imaging Classification (MIC) used to assess risk of kidney failure.
- A study showed that these two assessment methods do not align well in categorizing risk levels, suggesting that while MIC is useful for risk assessment, it should be combined with additional genetic and phenotypic details for improved accuracy.
We describe the case of a 44-year-old male patient with a longstanding history of microhematuria and mildly impaired kidney function (CKD G2A1). The family history disclosed three females who also had microhematuria. Genetic testing by whole exome sequencing revealed two novel variants in (NM_000092.
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