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 |