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Case Reports
. 2018 Jul 17;169(2):130-131.
doi: 10.7326/L17-0644. Epub 2018 Mar 27.

Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts

Ashima Gulati  1 , Kyongtae T Bae  2 , Stefan Somlo  1 , Terry Watnick  3
Affiliations
Case Reports

Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts

Ashima Gulati et al. Ann Intern Med. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflict of interest: None

Figures

Figure 1.
Figure 1.
Coronal T2 MRI of the first patient’s abdomen showing bilateral mildly enlarged kidneys with multiple small cysts (black arrows) and dominant large cortical cysts (blue arrows) projecting from the renal cortex.
Figure 2.
Figure 2.
Coronal T2 MRI of the second patient’s abdomen showing bilateral mildly enlarged kidneys with several small to moderate cysts and relatively preserved renal parenchyma.
See this image and copyright information in PMC

References

    1. Pei Y, Watnick T. Diagnosis and screening of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis 2010; 17:140–52. PMID: 20219617 - PMC - PubMed
    1. Plaisier E, Gribouval O, Alamowitch S, Mougenot B, Prost C, Verpont MC, et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med 2007; 357:2687–95. PMID: 18160688 - PubMed
    1. Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, et al. Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. Am J Med Genet A 2010; 152A:2550–5. PMID: 20818663 - PubMed
    1. Grantham JJ, Torres VE, Chapman AB, Guay-Woodford LM, Bae KT, King BF Jr, et al. ; CRISP Investigators. Volume progression in polycystic kidney disease. N Engl J Med 2006; 354:212–30. PMID: 16707749 - PubMed
    1. Song X, Haghighi A, Iliuta IA, Pei Y. Molecular diagnosis of autosomal dominant polycystic kidney disease [published online ahead of print August 13, 2017]. Expert Rev Mol Diagn. 2017; 17:885–95. PMID: 28724316 - PubMed

MeSH terms

Supplementary concepts