Table 1.
Synopsis of ARPKD patients/families
| Family/ Patient | Sex | Origin | PKHD1 Mutations | Mutant Exon | Clinical Course |
|---|---|---|---|---|---|
| F719 (C) | Female | Turkey | c.3306delT (p.Tyr1102X) (P) c.3306delT (p.Tyr1102X) (M) | 29 | Early HTN, enlarged polycystic kidneys, PD until RTX at age 3 yr |
| F153 (C) | Male | Turkey | c.7215delG (p.Gln2405fs) (P) c.7215delG (p.Gln2405fs) (M) | 45 | Early HTN, enlarged polycystic kidneys, stable condition at age 2 yr |
| F259 (C) | Male | Turkey | c.7215delG (p.Gln2405fs) (P) c.7215delG (p.Gln2405fs) (M) | 45 | Abdominal distention in infancy, RTX at age 7 yr |
| F730 (C) | Female | Turkey | c.2130_2131insTA (p.Asn711X) (P) c.2130_2131insTA (p.Asn711X) (M) | 21 | OH and enlarged kidneys in late pregnancy, ESRD shortly after birth with nephrectomy, LTX at age 2 yr, RTX at age 3 yr |
C, parental consanguinity; HTN, systemic arterial hypertension; M, maternal; P, paternal; PD, peritoneal dialysis; RTX, renal transplantation; OH, oligohydramnios; LTX, liver transplantation.