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dc.contributor.authorBhattacharyya, Aniruddha
dc.contributor.authorHuang, Yuting
dc.contributor.authorKhan, Sarah Hussain
dc.contributor.authorDrachenberg, Cinthia Beskow
dc.contributor.authorMalone, Laura C
dc.date.accessioned2021-11-12T15:50:16Z
dc.date.available2021-11-12T15:50:16Z
dc.date.issued2021-10-30
dc.identifier.urihttp://hdl.handle.net/10713/17099
dc.description.abstractBackground: Alport Syndrome and IgA Nephropathy (IgAN) are both disorders that can cause hematuria. Alport syndrome is most commonly an X-linked disease, caused by COL4A5 mutation. Mutations of COL4A3 and COL4A4 on chromosome two are also common causes of Alport syndrome. IgAN is the most common glomerulonephritis worldwide. Though IgAN is usually sporadic, an estimated 15% of cases have an inheritable component. These cases of Familal IgA Nephropathy (FIgAN) can have mutations on genes which are known to cause Alport Syndrome. Case presentation: We report a case of a 27-year-old man with strong family history of renal disease, who presented with hematuria and new non-nephrotic range proteinuria. Physical exam showed no abnormalities. His creatinine remained persistently elevated, and renal ultrasound exhibited bilaterally increased echogenicity consistent with Chronic Kidney Disease. Twenty-four-hour urinary collection revealed non-nephrotic range proteinuria of 1.4 g, with otherwise negative workup. On biopsy, he had IgA positive immunofluorescent staining as well as moderate interstitial fibrosis and tubular atrophy. Electron microscopy showed a basket-weave pattern of thickening and splitting of the lamina densa-consistent with Alport Syndrome, as well as mesangial expansion with electron-dense deposits -consistent with IgAN. Conclusions: Mutations of COL4A5 on the X chromosome, as well as mutations of COL4A3 and COL4A4 on chromosome 2, can cause both Alport Syndrome and FIgAN. Genome wide association studies identified certain Angiotensin Converting Enzyme gene polymorphisms as independent risk factors for progression of IgAN. Our Presentation with this co-occurring pathology suggests a new paradigm where Alport Syndrome and FIgAN may represent manifestations of a single disease spectrum rather than two disparate pathologies. Appreciating hematuria through this framework has implications for treatments and genetic counseling. Further genome wide association studies will likely increase our understanding of Alport Syndrome, FIgAN, and other causes of hematuria. © 2021, The Author(s).en_US
dc.description.urihttps://doi.org/10.1186/s12882-021-02567-9en_US
dc.language.isoenen_US
dc.publisherSpringer Natureen_US
dc.relation.ispartofBMC Nephrologyen_US
dc.rights© 2021. The Author(s).en_US
dc.subjectAlport syndromeen_US
dc.subjectCase reporten_US
dc.subjectHematuriaen_US
dc.subjectIgA nephropathyen_US
dc.subjectProteinuriaen_US
dc.titleTale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case reporten_US
dc.typeArticleen_US
dc.identifier.doi10.1186/s12882-021-02567-9
dc.identifier.pmid34717572
dc.source.volume22
dc.source.issue1
dc.source.beginpage358
dc.source.endpage
dc.source.countryEngland


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