Table 1.
Clinical Presentation of Kidney and Liver Disease in the 20 Affected Individuals from Nine Families with GANAB Mutations
| Family | GANAB Mutation | Subject | Sex | eGFRa(Age in Years) | HBP (Age in Yearsb) |
Radiologic Presentation |
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
Kidneys |
Liver |
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| Type | Agec | Cysts | Volumed | Figure | Cysts | Volumee | Figure | ||||||
| M263f | c.1265G>T (p.Arg422Leu) | I-1 | M | 78 (66) | N (67) | CT | 66 | ∼10 bilateral cysts (largest 11 cm) | 302g | 1F | >50 scattered cysts (largest 6 cm) | 1,226 | 1F |
| II-1 | F | 91 (42) | N (43) | MRI | 41 | ∼10 bilateral cysts (largest 3 cm) | 211 | 1G | >20 scattered cysts (largest 3 cm) | 835 | 1G | ||
| M641 | c.1914_1915delAG (p.Asp640Glnfs∗77) | II-1 | F | 86 (51) | Y (40) | CT | 55 | ∼15 bilateral cysts (largest 10 cm) | 822g | S3A | no liver cysts detected | 1,505h | S3A |
| II-2 | F | 104 (46) | N (50) | CT | 45 | ∼10 bilateral cysts (largest 6 cm) | 318g | 2B | ∼20 scattered cysts (largest 2 cm) | 764 | 2B | ||
| 290100 | c.1914_1915delAG (p.Asp640Glnfs∗77) | I-1 | M | 78 (65) | N (65) | MRI | 58 | ∼8 bilateral cysts (largest 2 cm) | 227 | 2E | >30 scattered cysts (largest 3 cm) | 1,255 | 2E |
| II-1 | M | 87 (25) | Y (13) | MRI | 24 | ∼12 bilateral cysts (largest 2.5 cm) | 259 | 2D | none | 832 | 2D | ||
| P1174 | c.1214C>G (p.Thr405Arg) | I-1 | M | NAi | N (61) | US | 55 | 3 cysts in the left kidney | NE | S3B | 1 cyst (1.5 cm) | NE | – |
| II-1 | F | NAi | N (35) | US | 29 | 2 cysts in the right kidney | NE | 2H | NA | NA | – | ||
| III-1 | M | 122 (9) | N (9) | MRI | 9 | ∼5 bilateral cysts (largest 2 cm) | 116 | 2G | none | 492 | – | ||
| M656 | c.2690+2_+7del | I-1 | M | NAi | Y (55) | CT∗ | 67 | multiple small cysts | NE | S3C | none | NE | S3C |
| II-1 | M | 84 (39) | N (39) | US | 44 | multiple cysts reported | NA | – | multiple cysts reported | NA | – | ||
| II-2 | F | 77 (50) | N (50) | US | 52 | ∼5–10 bilateral cysts (largest 2 cm) | NE | S3D | >20 scattered cysts (largest 5 cm) | NE | S3D | ||
| II-3 | M | 95 (49) | Y (35) | MRI | 43 | >30 bilateral cysts (largest 3 cm) | SE | 2L | >20 scattered cysts (largest 1 cm) | NE | 2L | ||
| PK20016 | c.39−1G>C | II-1 | M | 90 (53) | Y (45) | CT∗ | 52 | ∼20 bilateral cysts (largest 10 cm) | 665g | 3B | ∼20 scattered cysts (largest 2 cm) | 1,449h | 3B |
| PK20017 | c.2176C>T (p.Arg726∗) | II-1 | F | 77 (78) | Y (53) | US | 78 | ∼40 bilateral cysts (largest 3 cm) | NE | 3D | ∼20 scattered cysts (largest 1.5 cm) | NA | 3D |
| P1073 | c.2515C>T (p.Arg839Trp) | I-2 | F | NA | NA | US | (78) | unknown | NA | – | multiple cysts reported | NA | – |
| II-1 | F | 86 (50) | N | CT∗ | 43 | ∼8 bilateral cysts (largest 1 cm) | 196 | 3F | severe PLD, transplant at 43 years | 4,641h | 3F | ||
| II-2 | M | NA | NA | US | (44) | unknown | NA | – | multiple cysts reported | NA | – | ||
| M472 | c.152_153delGA (p.Arg51Lysfs∗21) | II-1 | F | 82 (58) | N (58) | MRI | 58 | ∼20 cysts (largest 1 cm) | 223 | 3I | severe PLD, resections at 47 and 48 years | 1,749j,h | 3I |
| II-2k | F | NA | N (50) | MRI | 50 | ∼16 bilateral cysts (largest 6 cm) | 305g | S3E | >50 scattered cysts (largest 5 cm) | 1,249h | S3E | ||
Abbreviations are as follows: CT, computed tomography; CT∗, contrast-enhanced CT; eGFR, estimated glomerular filtration rate; HBP, high blood pressure; N, no; NA, not available; NE, not enlarged; SE, slightly enlarged; US, ultrasound; and Y, yes.
Expressed in mL/min/1.73 m2 on the basis of the last data available; obtained with the CKD-EPI formula in adults49 and the Schwarz formula in the pediatric individual.50
Age at HBP diagnosis or blood-pressure measurement.
Age at imaging examination. Values in parentheses are the present age if images are not available.
Kidney volume measurement or estimate (NE or SE). Values are the measured height-adjusted total kidney volume (htTKV) in mL/m.
Liver volume measurement or estimate (NE). Values are the measured height-adjusted total liver volume (htTLV) in mL/m.
The mutation in this pedigree was first identified by whole-exome sequencing.
Enlarged values: mean + 2 SDs of normal male and female htTKV.48
Enlarged values: mean + 2 SDs of normal male and female htTLV.26
Kidney function was reported to be within the normal range.
htTLV after resections.
A sample was unavailable, and so the GANAB mutation was not confirmed.