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Case Reports
. 2015 May;65(5):A17-9.
doi: 10.1053/j.ajkd.2014.12.019.

Quiz page May 2015: crystalline nephropathy in an identical twin

Varun Agrawal  1 , Pamela C Gibson  2 , Amrik Sahota  3 , Samih H Nasr  4
Affiliations
Case Reports

Quiz page May 2015: crystalline nephropathy in an identical twin

Varun Agrawal et al. Am J Kidney Dis. 2015 May.
No abstract available

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Figures

Figure 1
Figure 1
Light microscopy of hematoxylin and eosin–stained kidney biopsy specimen under (A) standard illumination and (B) as viewed under polarized light (original magnification, × 200.
Figure 2
Figure 2
Ethidium bromide–stained agarose gel shows result of polymerase chain reaction (PCR) amplification and Tru91 digestion of a 292 base pair (bp) amplicon spanning the splice donor site upstream of intron 4 of APRT from DNA isolated from the patient and her family members. A single T insertion at this splice donor site (TGgtaa to TGgttaa [IVS4+2insT]) introduces a restriction site recognized by Tru91 that consequently cuts the amplicon into 206- and 86-bp segments. This mutation was identified in both alleles in the proband (RO), her identical twin sister (RI), and an elder sister (S1). The mutation was present in only 1 allele in her mother, father, and the eldest sister (S2).
Figure 3
Figure 3
Pedigree shows the transmission of adenine phosphoribosyltransferase deficiency in the family. Completely shaded circles indicate homozygotes; half-shaded circles or squares, heterozygote women and men, respectively; “?” refers to the possibility that the proband’s maternal grandfather and paternal grandfather were heterozygotes.
See this image and copyright information in PMC

References

    1. Yarlagadda SG, Perazella MA. Drug-induced crystal nephropathy: an update. Expert Opin Drug Saf. 2008;7(2):147–158. - PubMed
    1. Bollée G, Dollinger C, Boutaud L, et al. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol. 2010;21(4):679–688. - PMC - PubMed
    1. Nasr SH, Sethi S, Cornell LD, et al. Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. Nephrol Dial Transplant. 2010;25(6):1909–1915. - PubMed
    1. Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I. Adenine phosphoribosyltransferase deficiency. Clin J Am Soc Nephrol. 2012;7(9):1521–1527. - PubMed

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