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Table 1 Features of patients with mutation

From: Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1

# Sex Symptoms onset age Y/M Allele 1 Allele 2 Initial compliant Consanguinity Familial renal stone history Urine Oxalate (mg/1.73 m2/24 h)
F1 F 15 years c.584 T > G (p.Met195Arg) c.584 T > G (p.Met195Arg) Trf Yes Yes 70
F4 F 13 years c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Trf Yes No 55
F6 F 8 years c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Ruti + Rf Yes No 82
F8 F 4 years c.602A > T (p. Asp201Val) c.602A > T (p. Asp201Val) Aki Yes No 55
F9 F 8 years c.1007 T > A (p.Val336Asp) c.1007 T > A (p.Val336Asp) Aki + Bks Yes No 45
F10 F 3 years c.941C > T (p.Pro314Leu) N Ruti & Oli No No 50
F19 F 13 years c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Ruti + Rf + Hem No Yes 55
F21 M 1 y c.322 T > C (p.Trp108Arg) c.322 T > C (p.Trp108Arg) Rf Yes No 80
F23 M 3.5 years c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Ruti + Ssp Yes Yes 282
F25 M 7 months c.971-972delTG (p.Val324fs) c.971-972delTG (p.Val324fs) Rf Yes No 250
F28 M 3 months c.33_34insC (p.Lys12fs) c.1007 T > A (p.Lys12fs) An Yes Yes 150
F30 F 8 months c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Rf Yes No 240
F31 F 7 months c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Bneph Yes No 128
F33 F 8 years c.305 T > A (p.Val102Asp) c.305 T > A (p.Val102Asp) Ruti Yes Yes 92
F34 F 2.5 years c.584 T > G (p.Met195Arg) c.584 T > G (p.Met195Arg) Ruti Yes Yes 60
F35 F 7.5 months c.198C > A (p.Tyr66X) c.198C > A (p.Tyr66X) Trf + An Yes Yes 50
F36 F 7 months c.866G > A (p.Arg289His) c.866G > A (p.Arg289His) Trf Yes No 30
F39 F 10 years c.322 T > C (p.Trp108Arg) c.322 T > C (p.Trp108Arg) Rf Yes No 75
F40 F 8 years c.508G > A (p.Gly170Arg) c.997A > T (Arg333X) Trf No No 200
F41 F 10 months c.1007 T > A (p.Val336Asp) c.1007 T > A (p.Val336Asp) Ruti Yes No 130
F42 M 3.5 years c.584 T > G (p.Met195Arg) c.1078C > T (p.Arg360Trp) Trf No Yes 250
F45 F 5 months c.33_34insC (p.Lys12fs) c.508G > A (p.Gly170Arg) Aki Yes Yes 230
F48 M 1 months c.971-972delTG (p.Val324fs) c.971-972delTG (p.Val324fs) Aki Yes Yes 111
F49 M 12 years c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Rf Yes No 150
F50 M 4 months c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Aki Yes Yes 100
F51 F 2.5 years c.584 T > G (p.Met195Arg) c.584 T > G (p.Met195Arg) Ruti + Rf Yes Yes 368
F56 F 6 years c.359-1_382del c.359-1_382del Bks + Rf yes yes 294
F60 F 2 years c.33_34insC (p.Lys12fs) c.508G > A (p.Gly170Arg) Bks + Ruti No No 150
F61 M 5 months c.322 T > C (p.Trp108Arg) c.322 T > C (p.Trp108Arg) Rf Yes Yes 107
F65 M 3 months c.33_34insC (p.Lys12fs) c.1007 T > A (p.Val336Asp) Aki No No 90
F66 F 8 years c.584 T > G (p.Met195Arg) c.584 T > G (p.Met195Arg) Bks + Ruti Yes Yes 297
F68 F 4 months c.33_34insC (p.Lys12fs) c.508G > A (p.Gly170Arg) Aki No Yes 75
F73 M 3 years c.33_34insC (p.Lys12fs) N Bks No No 202
F86 M 4 y c.603C > A (p.Asp201Glu) c.603C > A (p.Asp201Glu) Bks + Hem Yes Yes 100
F93 M 9 years c.584 T > G (p.Met195Arg) c.584 T > G (p.Met195Arg) Trf Yes No 130
F99 M 8 months c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Bneph Yes Yes 200
F100 F 7 years c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Bneph Yes No 150
F103 M 7 years c.1007 T > A (p.Val336Asp) c.1007 T > A (p.Val336Asp) Ruti Yes No 150
F111 M 13 years c.140G > A (p.Gly47Glu) c.731 T > C (p.Ile244Thr) Bks Yes Yes 150
F116 F 45 years c.1007 T > A (p.Val336Asp) c.1007 T > A (p.Val336Asp) Bks Yes Yes 125
F123 M 5 years c.198C > A (p.Tyr66X) c.198C > A (p.Tyr66X) Nakt Yes Yes 80
F133 M 5 years c.198C > A (p.Tyr66X) N ND No Yes 47
F134 M 4.5 years c.971-972delTG (p.Val324fs) c.971-972delTG (p.Val324fs) Aki Yes Yes 160
F136 M 4 years c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Rf Yes No 125
F138 F 9 years c.33_34insC (p.Lys12fs) c.33_34insC (p.Lys12fs) Bneph Yes Yes 246
# Blood creatinine Calcemia (mg/dl) Urine oxalate Urine creatinine Radiological findings Additional information ESRD Outcome
F1 13 7 High 34 Bneph Hemdia Yes Died
F4 11 7.2 High 21 Bneph Perdia Yes ND
F6 2 8 High 11 UL Sr No Alive
F8 3.7 6.6 High 13 Bneph ND Yes ND
F9 10 9.9 High 10 UL ND Yes Died
F10 0.4 8 High 18 UL ND ? ND
F19 5.6 6 High 16.5 UL ND Yes Alive
F21 1.5 7.7 High 12 Bneph ND No ND
F23 0.6 8.4 High 35 UL + Bneph Cm No Alive
F25 9 9.6 High 43 Bneph Perdia Yes Died
F28 7 8.5 High 12 Bneph ND Yes Died
F30 8.9 7.3 High 23 Bneph ND Yes Died
F31 0.82 9.7 High 13 Bneph Cm No Alive
F33 0.6 9.2 High 8 UL Cm No Alive
F34 0.76 10 High 11 Bneph ND No ND
F35 8.3 9.2 High 15 Bneph Perdia Yes Died
F36 6.7 7 Normal 10 UL + Bneph Perdia Yes ND
F39 1 5 High 15 Bneph Perdia No ND
F40 10 8 High 10 Bneph Perdia No ND
F41 0.7 12 High 19 Bneph Hemdia No ND
F42 2.5 11 High 22 UL Perdia No ND
F45 9 9.5 High 15 Bneph Hemdia Yes ND
F48 4.3 8.5 High 10 Bneph Hemdia Yes Died
F49 5 8 High 12 Bneph Cm Yes Alive
F50 14 8.5 High 15 Bneph ND Yes Died
F51 5.3 7.9 High 24 Bneph Perdia Yes Died
F56 3.5 7 High 10 Bneph Cm Yes Alive
F60 0.6 10 High 6.5 Bneph Perdia NO Alive
F61 4 9 High 15 Bneph Cm Yes Died
F65 8.9 8 High 20 Bneph Cm Yes ND
F66 1.4 9 High 20 UL Hemdia No Alive
F68 3.5 7.8 High 16 Bneph ND Yes Died
F73 0.38 9.5 High 20 UL Perdia No Alive
F86 0.7 10 High 22 UL Perdia No Alive
F93 9.6 8.7 High 15 Bneph Hemdia Yes Died
F99 0.8 8.5 High 15 Bneph Perdia No Alive
F100 0.9 9 High 24 Bneph Perdia No ND
F103 0.9 9 High 24 Bneph Cm No Alive
F111 4 9.5 High 25 Bneph Hemdia Yes Alive
F116 4 8 High 15 Bneph Drakt Yes Alive
F123 1.7 10 High 67 Bneph Cm Yes Alive
F133 3.7 8 Normal 44 Bneph ND Yes Alive
F134 0.74 8.8 High 30 Bneph Cm no Alive
F136 1.4 9.1 High 15 Bneph Cm No Alive
F138 1 10.6 High 28 Bneph ND Yes ND
  1. Trf terminal renal failure; An Anuria, Ruti recurrent urinary tract infection, Rf renal failure, Aki acute kidney injury, Bks bilateral kidney stones, Oli oliguria, Hem hematuria, Ssp spontaneous stone passage, Nakt nephrocalcinosis after kidney transplantation, Hemdia hemodialysis, Perdia peritoneal dialysis, Sr stone resection, Cm conservative management, Drakt disease recurrence after kidney transplant, Bneph bilateral nephrocalcinosis, UL urolithiasis, ESRD end stage renal disease, Min miner, Maj major, ND no data aviable