1 |
Rajput et al, 2020 |
1 |
Kidney transplant from mother |
Variant in Exon1 of APRT gene |
Graft biopsy |
Post |
Allograft biopsy was performed, which showed reddish brown crystals in many tubules |
> 2 months |
Kidney allograft dysfunction |
1 |
Living donor kidney transplant |
Not conducted |
Graft biopsy |
Post |
Allograft biopsy showed reddish brown crystals in the tubules and interstitium. Primary oxalosis was suspected and he was put on treatment with hydration and pyridoxine |
> 2 months |
Acute graft dysfunction |
2 |
Bagai et al, 2019 |
1 |
Underwent live donor kidney allograft transplantation from wife |
Anti-sense variation in exon 3 of the APRT gene that resulted in stop codon and premature truncation of the protein at codon 87 so APRT deficiency |
Graft biopsy |
Post |
Graft biopsy was done, which showed normal glomeruli with presence of multiple light brown annular intratubular crystals with surrounding giant cell reaction on light microscopy |
> 2 months |
Acute graft dysfunction |
3 |
Li et al, 2019 |
1 |
Deceased donor kidney transplant |
Not conducted |
Allograft biopsy |
Pre |
Biopsy on day 21 showed similar findings (crystal nephropathy, borderline rejection) and he received further pulse methylprednisolone. |
> 6 months |
DGF |
4 |
George et al, 2017 |
1 |
Living-donor kidney transplant from sister |
Not conducted |
FTIR spectroscopy |
Post |
NA |
Functional state till last follow up |
Stable graft |
5 |
Nanumuko et al, 2017 |
1 |
Living-related kidney transplantation from mother |
A nonsense mutation from TGG to TGA at codon 98 |
Graft biopsy and IR spectroscopy |
Post |
Similar small crystal depositions were observed within the tubular lumen in a kidney allograft biopsy specimen obtained on postoperative day 7 |
> 2 months (110 days) |
Stable graft |
|
Author |
Number of grafts received |
Type of donor |
Method of analysis |
APRT Diagnosis (Pre/Post transplantation) |
Graft biopsy Characteristics |
Graft survival time (months) |
Outcome |
Genetic analysis |
Other method |
6 |
Brilland et al, 2015 |
1 |
NA |
Conducted |
NA |
Post |
No signs of graft rejection on the biopsy; however, ATN with intratubular deposition of typical 2,8-DHA crystals was identified or crystal nephropathy |
>18 months |
Stable graft |
7 |
Kaartinen et al, 2014 |
2 |
Cadaveric kidney transplant (both 1 and 2) |
A homozygous mutation in c.188G>A, p.G63D in the APRT gene was found, causing glycine (codon GGC) transformation into aspartate. |
Graft biopsy |
Post |
Allograft biopsy was taken three times: 10,19, and 38 days post-transplantation and biopsy revealed normal glomerular pattern and no signs of rejection but extensive acute tubular injury and intratubular obstruction by needle shaped crystals of unknown type |
> 11 months |
kKdney allograft dysfunction |
8 |
Quaglia et al, 2014 |
1 |
NA |
Analysis of the APRT gene showed heterozygous mutation (one base insertion with a frameshift) |
Infrared spectrometry |
NA |
Histological examination showed diffuse intratubular obstruction by crystals identified as 2,8-DHA |
NA |
DGF |
1 |
Deceased donor kidney transplant |
Not conducted |
Allograft biopsy |
Pre |
1st biopsy - showed mild mesangial proliferation with granular diffuse IgA and C3 deposits and some scanty intratubular crystals assumed as, 2nd biopsy - persistence of mild IgA nephropathy, interstitial inflammation, and diffuse deposits of intratubular brown crystal, 3rd biopsy - showed persistence of intratubular brown crystals with interstitial inflammatory infiltration and fibrosis uric acid |
36 months (3 years) The patient died the following year of breast carcinoma. |
DGF |
|
Author |
Number of grafts received |
Type of donor |
Method of analysis |
APRT Diagnosis (Pre/Post transplantation) |
Graft biopsy Characteristics |
Graft survival time (months) |
Outcome |
Genetic analysis |
Other method |
9 |
Zaiden et al, 2014 |
1 |
All patient except one, received a deceased donor kidney |
1st allele exon-4, 2nd allele exon - 4 |
Graft biopsy and FTIR |
Post |
Positive crystal on previous graft biopsy and oxalate crystalline nephropathy on current biopsy |
>132 months |
Chronic graft dysfunction |
1 |
1st allele exon-3, 2nd allele exon - 3 |
Graft biopsy and FTIR |
Post |
Positive crystal on previous graft biopsy and oxalate crystalline nephropathy on current biopsy |
>6 months |
Chronic graft dysfunction |
2 |
Not conducted |
Graft biopsy and FTIR |
Post |
Positive crystal on previous graft biopsy and undetermined crystalline nephropathy on current biopsy |
>40 months |
Stable graft |
2 |
1st allele exon-1, 2nd allele exon - 4 |
FTIR |
Post |
Oxalate crystalline nephropathy on current biopsy |
> 24 months |
Chronic graft dysfunction |
1 |
Not conducted |
Graft biopsy and FTIR |
Post |
Positive crystal on previous graft biopsy and urate crystalline nephropathy on current biopsy |
>30 months |
Chronic graft dysfunction |
1 |
1st allele exon 5-, 2nd allele exon - undetermined |
FTIR |
Post |
2,8-DHA crystalline nephropathy on current biopsy |
> 24 months |
Stable graft |
1 |
1st allele exon-4, 2nd allele exon - undetermined |
Graft biopsy and FTIR |
Post |
Undetermined crystalline nephropathy on current biopsy |
8 months |
Graft loss |
10 |
Sharma et al, 2012 |
1 |
Deceased donor kidney transplant |
Not conducted |
Allograft biopsy |
Post |
Kidney allograft biopsy revealed a severe crystalline nephropathy with abundant tubular and interstitial brown, birefringent crystals |
1 month (>25 days) |
DGF |
11 |
Bertram et al, 2010 |
3 |
Third transplant (Deceased donor) |
Not conducted |
Infrared spectrometry |
Post |
Allograft biopsy on day 7 revealed acute humoral rejection and intratubular DHA crystals, biopsy on day 23, no signs of acute rejection were found, and the number of DHA crystals had receded |
9 months (patient died with Pulmonal-aspergillosis with a functioning graft) |
Stable graft |
|
Author |
Number of grafts received |
Type of donor |
Method of analysis |
APRT Diagnosis (Pre/Post transplantation) |
Graft biopsy Characteristics |
Graft survival time (months) |
Outcome |
Genetic analysis |
Other method |
12 |
Micheli et al, 2010 |
1 |
Deceased donor kidney transplant |
A homozygous C>G substitution at -3 in the splicing site of exon 2 (IVS2 -3 c>g) |
X-ray diffraction and APRT activity was measured in lysates and in intact erythrocytes |
Post |
Post-transplant performed and disclosed interstitial crystal deposition with diffuse intratubular crystal cast formations |
60 months (> 5 years) |
Stable graft |
13 |
Nasr et al, 2010 |
2 |
Deceased donor kidney transplant (1 and 2 both) |
Not conducted |
Allograft biopsy and X-ray microanalysis of the tubular crystals |
Post |
Recurrent disease was documented in allograft biopsies performed 3 days, 4 months, 5 months, 8 months and 1 year post-transplant. None of the biopsies showed acute rejection or calcineurin inhibitor toxicity |
12 months (> 1 year) |
KGD |
1 |
Living related kidney transplant |
Not conducted |
Allograft biopsy |
Pre |
Post transplantation allograft biopsy after 2 month revealed acute tubular necrosis but no crystals were identified |
4 months |
Stable graft |
1 |
Deceased donor kidney transplant |
Not conducted |
Allograft biopsy |
Pre |
A repeat biopsy at 3 months post-transplant showed fewer crystals with minimal tubular atrophy, interstitial fibrosis and inflammation |
> 18 months |
DGF |
14 |
Stratta et al, 2010 |
1 |
Deceased donor kidney transplant |
This analysis showed only 1 heterozygous sequence variant, a duplication of T at position 1832 in the genomic DNA, resulting in deletion of exon 4 in messenger RNA, premature termination at amino acid 110, and a truncated protein of 109 amino acids instead of 180 |
Radiolabeled 14C-adenine in a chromatographic assay for APRT activity and allograft biopsy |
Post |
1st biopsy post transplantation - normal glomerular, interstitial, and vascular morphologic patterns, but intratubular obstruction by crystals of unknown type, second biopsy performed 2 weeks later, and again showing many brown and irregular needle-shaped intratubular crystals |
12 months (> 1 year) |
DGF |
|
Author |
Number of grafts received |
Type of donor |
Method of analysis |
APRT Diagnosis (Pre/Post transplantation) |
Graft biopsy Characteristics |
Graft survival time (months) |
Outcome |
Genetic analysis |
Other method |
15 |
Cassidy et al, 2004 |
1 |
Cadaveric kidney transplant |
Not conducted |
Infrared spectroscopy |
Post |
Chronic interstitial nephritis with non-specific crystal deposition. |
> 8 months |
DGF |
16 |
Eller et al, 2004 |
4 |
Cadaveric kidney transplant |
hom. c.400 þ2dup |
Graft biopsy and FTIR |
Post |
NA |
> 7 months |
DGF |
17 |
Benedetto et al, 2001 |
1 |
Living-related kidney transplant |
Not conducted |
Allograft biopsy and erythrocyte assay |
Post |
Allograft biopsy showed moderate-to-severe chronic interstitial nephritis with marked intratubular and parenchymal deposition of highly birefringent needle-shaped crystals arranged in an annular pattern. These crystals were suggestive of 2,8-DHA interstitial nephritis secondary to APRT deficiency. |
>19 months |
Kidney allograft dysfunction |
18 |
Brown et al, 1998 |
1 |
Cadaveric kidney transplant |
Not conducted |
Infrared spectrometry |
Post |
A kidney biopsy 14 days post-transplant showed acute tubular necrosis |
> 3 months (132 days) |
Stable graft |
19 |
De jong et al, 1996 |
1 |
NA |
Not conducted |
Kidney biopsy and HPLC in urine and serum for detection of 2,8-dihydroxyadenine |
Post |
Biopsy of the kidney graft was obtained on day 10 postoperatively because of oliguria. Little sign of rejection or cyclosporine nephrotoxicity was noted |
6 months |
Stable graft |
20 |
Gagne et al, 1994 |
1 |
Cadaveric kidney transplant |
Not conducted |
Kidney biopsy and Fourier transform infrared microscopy |
Post |
A biopsy of the allograft was performed that showed severe chronic interstitial nephritis associated with marked intratubular and parenchymatous deposition of highly birefringent needle-shaped crystals very similar to those observed on the native kidney |
108 months (> 9 years) |
KGD |