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Protein losing nephropathy (PLN)

General description

The Risk assessment for PLN is possible due to genetic testing. Hereditary PLN starts often with a hidden proteinuria in midlife. The disease can proceed mildly and stay steady for years. In some cases severe complications like kidney failure or thromboses occur. Nevertheless symptoms vary hugely and are supposed to depend on enviromental factors and modifying genes.

Breeds

Airedale Terrier, Irish Soft Coated Wheaten Terrier

Order details
Test number8492
AbbreviationPLN
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration3-5 working days
Test specifications
Symptom complexnephrological
Age of onsetmiddle age
Causalitycausally
GeneKIRREL2, NPHS1
MutationG-C, G-A
LiteratureOMIA:001326-9615
Detailed description

Hereditary PLN starts with a hidden proteinuria in midlife. The disease can proceed mildly and stay steady for years. In some cases severe complications like kidney failure or thromboses occur. Risk assessment for PLN is possible due to genetic testing, now. Nevertheless, starting point and development of symptoms vary hugely and are supposed to depend on enviromental factors and modifying genes. Additionally, aquired forms of PLN disease can not be detected by the genetic test.

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