Table 1.

Clinical, molecular, functional, and imaging results for ARPKD patients

Family No.Patient No.Gender/EthnicityAge at DiagnosisaAge at Diagnosis of Hypertension (years)PresentationAge at NIH Evaluation (years)PKHD1 MutationsbKidney Length (SD above Mean)cKidney Volume (ml/1.73 m2)dKidney Findings on USGSerum Cystatin C (mg/L)Serum-Cystatin-C- Based GFR Estimate (ml/min/1.73 m2)CrCl Based on 24-Hour Urine (ml/min/1.73 m2)
11M/C22 weeks0Perinatal, Perinatal sibling death3.8p.Thr36Met p.Asp3230fsTx (2.5)TxTxTxTxTx
22F/C22 weeks0Perinatal, Perinatal sibling death5.1p.Phe2374fs p.Gly470Val10.2NACM2.7123.722
33F/C23 weeksNo hypertensionPerinatal2.7p.Phe3485fs5.7339CM0.65125.7NA
44M/C23 weeks0Perinatal8.1IVS55 + 1G>A p.Trp2690Arg7.3595CM1.0274.282
55F/C28 weeks0Perinatal, Perinatal sibling death9.2p.Arg2573Cys7.5NACM1.5744.846
66F/H28 weeks0.2Perinatal8.4p.Thr36Met p.Cys2422Arg4.7275CM2.0932.139
77.1M/C29 weeks0Perinatal1.2p.Ile222Val p.Ser3017del4.2NAMP0.8888.258
77.2M/C6 yearsNo hypertensionNonperinatal8.1p.Ile222Val p.Ser3017del0.4241MP0.54156.2109
88F/C29 weeks0.8Perinatal2.2p.Pro724Arg p.His3049Arg9.2645CM1.3653.0NA
99M/H29 weeks3.5Perinatal12.3p.Val2798Gly p.Cys2803Arg1.9238MP1.0968.7144
1010.1F/C29 weeks1.2Perinatal18.8p.Thr36Met p.Ile222ValTx (18)TxTxTxTxTx
1010.2F/C5 yearsNo hypertensionPerinatal26.0p.Thr36Met p.Ile222Val1.4179CM1.0571.784
1010.3F/C2 yearsNo hypertensionNonperinatal21.0p.Thr36Met p.Ile222Val2.5226M0.79100.1122
1010.4M/C9 yearsNo hypertensionNonperinatal28.0p.Thr36Met p.Ile222Val3.3189M1.1465.188
1111F/C30 weeks0Perinatal, Perinatal sibling death11.1p.Ile2957Thr p.Val3546fsTx (2.5)TxTxTxTxTx
1212M/C30 weeks0Perinatal16.7p.Gly2705fs p.Thr36Met p.Ser2861Gly6.3333CM1.6841.448
1313F/C30 weeks0.1Perinatal, Perinatal sibling death21.0IVS39 + 2T>C p.Trp2749SerTx (15)TxTxTxTxTx
1414M/C31 weeks0Perinatal1.5p.Thr36Met p.Thr36Met11.6NACM2.9021.926
1515F/C38 weeks0Perinatal1.0p.Leu3543fs p.Ile222Val5.3NACM0.9580.659
1616F/C38 weeks0Perinatal, Perinatal sibling death9.2p.Ser1156Leu p.Met2804Lys7.31089CM2.1930.329
1717F/C01.3Perinatal1.3p.Thr36Met p.Ile2331Lys1.0NAM0.70115.3NA
1818M/C00Perinatal2.1p.Gln1256fs7.3NACM1.1067.941
1919eM/C00Perinatal2.2p.Thr36Met p.Trp1928Leu11.5NACM2.6424.4NA
2020M/C00Perinatal3.9p.Arg781X p.His3049Arg p.Arg3957CysTx (0.5)TxTxTxTxTx
2121M/C00Perinatal6.5p.Gly466Glu7.2963CMNANA63
2222F/C00Perinatal6.7p.Thr36Met p.Thr36Met2.5NACM2.4227.061
2323F/C00Perinatal6.9p.Gly466Glu p.Val1817Gly p.Met3642Ile7.7683CM4.5013.121
2424M/C00Perinatal7.4p.Tyr255Cys13.61355CM1.1962.049
2525F/C00Perinatal13.8p.Thr36Met p.Thr36MetTx (10)TxTxTxTxTx
2626.1M/C00Perinatal15.9p.Leu542fs p.Ile2331Lys2.4237CM0.54156.2134
2626.2F/C13 yearsNo hypertensionNonperinatal13.8p.Leu542fs p.Ile2331Lys3.8236MP0.52163.2192
2727M/C00Perinatal26.0p.Ile307Thr p.Gly2705fs p.Ser2861Gly4.6204CM2.0532.850
2828F/C0.05 years3Perinatal20.1p.Cys1249Trp p.Arg1624Trp5.7NACM0.8789.478
2929.1F/C0.1 yearsNo hypertensionNonperinatal4.0p.Leu2106Arg3.7NAMP0.54156.2131
2929.2F/C3 yearsNo hypertensionNonperinatal6.7p.Leu2106Arg5.5NAMP0.42209.5147
3030M/C0.1 yearsNo hypertensionNonperinatal30.0p.Pro3652fs7.7508CM1.3852.151
3131F/C0.2 years0.5Nonperinatal8.3p.Tyr486X p.Ile246Thr p.Tyr1136Cys5.6646CM1.0770.299
3232F/C0.2 years0.2Nonperinatal17.2p.Thr36Met2.9379CM0.9184.858
3333.1F/C0.3 years0.9Nonperinatal1.3p.Thr36Met p.Ala3207Thr7.0NAMP1.8038.2NA
3333.2F/C0.4 years0.4Nonperinatal5.0p.Thr36Met p.Ala3207Thr13.7NACM1.8337.456
3434M/C0.3 years0.3Perinatal2.5p.Ser2219Leu6.1NACM1.1564.583
3535M/C0.3 years0.3Perinatal11.1p.Thr36Met5.0280CM1.4748.476
3636F/C0.3 years0.4Nonperinatal11.1p.Ala1254fs p.Arg1624Trp5.0886CM1.8038.243
3737M/C0.4 years0.4Nonperinatal4.1p.Arg496X p.Gly2224Arg6.3NACM0.8098.662
3838F/AA0.4 years0.4Nonperinatal16.1p.Thr36Met p.Arg3240GlnTx (15)TxTxTxTxTx
3939M/C0.5 years0.5Nonperinatal1.0p.Cys1249Trp p.Gly2210Glu11.2782CM1.1962.083
4040.1F/C0.7 years0.7Nonperinatal2.5pGly3378fs p.Arg1624Trp6.0NACM0.68119.2NA
4040.2F/C28 yearsNo hypertensionNonperinatal30.0pGly3378fs p.Gly1712Arg1.186M0.61135.4129
4141F/C0.8 yearsNo hypertensionNonperinatal7.9p.Thr3035fs p.Ala293Val6.2164M0.67121.3161
4242M/C0.8 years0.8Nonperinatal8.7p.Thr36Met p.Ile222Val2.7462CM0.9085.9NA
4343F/C0.8 years0.8Nonperinatal10.1p.Thr36Met p.Ile2957Thr4.3376CM2.3927.460
4444F/C1 yearsNo hypertensionNonperinatal5.5p.Gly466Glu4.6264MP0.46188.4190
4545M/C1.1 years1.1Nonperinatal11.3p.Trp158X p.Arg1624Trp7.4650CM2.1331.458
4646F/C1.2 years1.8Nonperinatal4.1p.Ser2861Gly p.Ile2957Thr10.5860CMNANA48
4747F/C1.8 years1.8Nonperinatal35.0p.Ala3207ThrTx (31)TxTxTxTxTx
4848F/C2 yearsNo hypertensionNonperinatal13.9p.Tyr143Cys5.6303MP0.68119.2135
4949F/C2.7 years2.7Nonperinatal5.7p.Glu2431Val8.8NACM0.9877.8182
5050M/C3 years3Nonperinatal6.9p.Thr36Met p.Gly466Glu7.7496CM1.5246.560
5151.1M/C3 yearsNo hypertensionNonperinatal8.5p.Arg2033Gly p.Ile2957Thr4.1270MP0.61135.4178
5151.2F/C3 yearsNo hypertensionNonperinatal10.4p.Arg2033Gly p.Ile2957Thr2.2181MP0.69117.2169
5252F/C3 yearsNo hypertensionNonperinatal9.1p.Arg760His p.Ala2009Thr2.8303M0.79100.1108
5353M/AA3 yearsNo hypertensionNonperinatal11.0p.Leu1965fs2.3205M1.0670.9122
5454M/C3.8 yearsNo hypertensionNonperinatal9.5p.Leu1965fs1.6193MP0.72111.5227
5555F/C4 yearsNo hypertensionNonperinatal10.7p.Thr36Met p.Leu1709Phe5.1203MP0.72111.5106
5656M/C5 years5Nonperinatal37.0p.Arg496X p.Ile222ValTx (18)TxTxTxTxTx
5757M/C6 years6Nonperinatal12.4p.His686Pro7.6549CM1.9933.926
5858F/C6 years6Nonperinatal16.2p.Thr36Met p.Val1741Met0.3225MP1.0770.2110
5959F/C6 years9Nonperinatal42.0p.Val1875Gly p.Ile2957ThrTx (31.5)TxTxTxTxTx
6060F/AA23 years23Nonperinatal40.0p.Leu1965fs p.Ile539ThrTx (36)TxTxTxTxTx
6161.1M/H28 yearsNo hypertensionNonperinatal45.0p.Leu2969fs p.Arg92Trp0.5169M0.9382.757
6161.2F/H39 yearsNo hypertensionNonperinatal47.0p.Leu2969fs p.Arg92Trp−1.5137CM1.4648.868
6262F/C41 years15Nonperinatal52.0p.Ala2515fs p.Ser1862Leu2.7257MP1.9933.960
6363F/C43 years45Nonperinatal56.0p.Ile222Val−6.1105CM3.8815.516
  • M, male; F, female; C, Caucasian; H, Hispanic; AA, African American; CM, cystic pathology involving both cortex and medulla; M, involving all medulla but not cortex; MP, involving parts of medulla; Tx, transplanted (age at transplant/dialysis); NA, not applicable.

  • a Prenatally, in weeks gestation; postnatally, in years.

  • b Detailed description of these mutations and assessment of their pathogenicity is published elsewhere (23); mutations listed only once are heterozygous.

  • c Average of two kidneys by USG.

  • d Average of two kidneys by MRI.

  • e Patient 19 received a kidney transplantation after the NIH evaluation.