Table 5.
Literature review of cases of recurrent 2,8-DHA crystalline nephropathy – characteristics at diagnosis and diagnostic methods.
| First Author (ref.) | Year | Age at diagnosis |
Gender | Order of Renal Tx |
History of nephrolithiasis ** |
Suspected cause of CKD |
Delay of diagnosis after Tx (weeks) |
sCr at diagnosis (μmol/L) |
Graft dysfunction |
FTIR | Diagnostic methods | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Crystalluria | APRT activity |
APRT gene analysis |
|||||||||||
| De Jong (5) | 1996 | 56 | M | 1st | + (40) | CTIN/Urate stones | 0,3 | Hemodialysis | CGD# | NA | + | 0% | NA |
| Brown (6) | 1998 | 49 | F | 1st | − | Undetermined CN | 4 | Hemodialysis | PGNF | +/GB | NA | NA | NA |
| Benedetto (7) | 2001 | 48 | M | 1st | − | Undetermined CN | 19 | 248 | AGD | NA | NA | 0% | NA |
| Cassidy (8) | 2004 | 23 | M | 1st | − | Undetermined CN | 2 | 361 | CGD | +/NL | NA | 0% | NA |
| Eller (9) | 2007 | 11* | M | 4th | + (9.5) | 2,8-DHA nephropathy | 1 | Hemodialysis | DGF## | +/NL | + | 0% | hom. c.400+2dup |
| Nasr (10) | 2010 | 42 | F | 2nd | − | Oxalate nephropathy | 6 | 486 | CGD | +/GB | NA | 0% | NA |
| Nasr (10) | 2010 | 54 | M | 1st | + (36) | 2,8-DHA nephropathy | 1,3 | 398 | AGD# | NA | NA | 0% | NA |
| Bertram (11) | 2010 | 56 | M | 3rd | + (21) | CTIN/Urate stones | 0,3 | Hemodialysis | DGF | +/NL | NA | NA | NA |
| Sharma (12) | 2012 | 80 | M | 1st | + (30) | CTIN/nephrolithiasis | 1 | Hemodialysis | DGF | NA | NA | 0% | NA |
| Kaartinen (13) | 2014 | 63 | M | 2nd | + (from childhood) | CTIN/nephrolithiasis | 0,3 | Hemodialysis | PGNF | NA | + | hom. c.188G>A | |
ref., reference number; F, female; M, male; Tx, transplant; CKD, chronic kidney disease; NA, not available; Nx, nephropathy; CN, crystalline nephropathy; CTIN, chronic tubulointerstitial nephropathy; sCr, serum creatinine; CGD, chronic graft dysfunction; AGD, acute graft dysfunction; DGF, delayed graft function; PGNF, primary graft non-function; GB, graft biopsy; NL, nephrolithiasis; hom., homozygous mutation.
*
before 1st renal transplantation;
**
delay between first episode of kidney stone and diagnosis (years);
#
history of DGF;
##
in the context of acute rejection.