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Case Reports
. 2021 Mar-Apr;31(2):197-200.
doi: 10.4103/ijn.IJN_366_19. Epub 2021 Apr 2.

A Rare Genetic Mutation in a Stone Former

T Yashwanth Raj  1 , Periandavan Kalaiselvi  2 , Pugazhendhi Kannan  2 , Sujit Suren  1 , M Edwin Fernando  1
Affiliations
Case Reports

A Rare Genetic Mutation in a Stone Former

T Yashwanth Raj et al. Indian J Nephrol. 2021 Mar-Apr.

Abstract

A 30-year-old woman with history of passage of stones since childhood presented with oliguria and pedal edema for 10 days. She had hypertension with a creatinine of 4.1 mg/dL. Evaluation showed presence of bilateral multiple renal calculi with features of chronicity of kidney disease. Metabolic work-up for nephrolithiasis turned out to be negative and eventually renal biopsy revealed features of chronic interstitial nephritis with greenish brown refractile crystals in the tubular lumen and interstitium. The possibility of dihydroxy adenine crystalline nephropathy was considered. Spectrophotometry of RBC lysates revealed decreased activity of Adenine phosphoribosyl-transferase enzyme. Gene amplification by PCR and sequential analysis identified a missense mutation in exon 3 region of APRT gene in the patient and her family members. This case report highlights the need to contemplate the diagnosis of DHA crystalline nephropathy in young patients with nephrolithiasis and the identification of a rare genetic mutation, which is being reported for the first time in India.

Keywords: 2,8-Dihydroxyadenine nephropathy; Adenosine phosphoribosyl transferase; chronic kidney disease; genetic mutation.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
×400, Haematoxylin and eosin staining showing interstitial inflammation around intra-tubular, greenish brown DHA crystals that are birefringent under polarized light
Figure 2
Figure 2
The nucleotide sequence of the Exon 3 in the APRT allele showing a homozygous point mutation at codon 200 CGA to CAA (NM_000485.2:c. 200G>A)
Figure 3
Figure 3
(a) Pedigree and mutational analysis of the proband (arrow) in the family. (b) Chromosome 16q24 Exon pattern of adenine phospho-ribosyl transferase (APRT) and the exon 3 amplified
See this image and copyright information in PMC

References

    1. Kamatani N, Terai C, Kuroshima S, Nishioka K, Mikanagi K. Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies. Hum Genet. 1987;75:163–8. - PubMed
    1. Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis. 2001;38:473–80. - PubMed
    1. Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, et al. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol. 2010;21:679–8. - PMC - PubMed
    1. Sahota AS, Tischfield JA, Kamatani N, Simmonds HA. The metabolic and molecular bases of inherited disease. In: Scriver CR, Baudet AL, Sly WS, Valle D, editors. Adenine Phosphoribosyltransferase Deficiency and 2,8-Dihydroxyadenine Lithiasis. NY, USA: McGraw-Hill; 2001.
    1. De Jong DJ, Assmann KJ, De Abreu RA, Monnens LA, Van Liebergen FJ, Dijkman HB, et al. 2, 8-dihydroxyadenine stone formation in a renal transplant due to adenine phosphoribosyltransferase deficiency. J Urol. 1996;156:1754–5. - PubMed

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