Table 1.
Clinical and radiological characterization of the 23 affected members in whom the novel pathogenic R79W-ALG5 variant was confirmed
| ID | Sex | eGFRa at last F/U (Age, yr) | uPCRb at last F/U (Age, yr) | HTN (Age) | Kidney Imaging |
Liver Imaging |
Comorbidities (Age, yr) | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Type | Age, yr | Cysts Descriptionc | Diameter (R/L), mm | Cysts | ||||||
| Pedigree F350 (18 individuals) | ||||||||||
| II.1 | F | ESKD (71) | 47 (71)d | Y (55) | MRI | 65 | >20 cysts bilaterally (largest 34 mm) | 65 / 67 | ∼15 scattered cysts (largest 7 mm) | Diverticulosis (67) |
| II.2 | F | 18 (59) | 2.5 (59) | N (55) | US | 53 | No kidney cysts identified | 84 / 81 | None | None |
| II.3 | M | 15 (74) | 20 (73) | Y (69) | MRI | 71 | ∼5–10 bilateral cysts (largest 15 mm) | 85 / 95 | ∼30 scattered cysts (largest 24 mm) | Liver cysts fenestration (70 years) for ongoing pain |
| II.4 | M | ESKD (63) | 78 (62)d | Y (50) | CT | 59 | ∼10 bilateral cysts (largest 31 mm) | 88 / 114 | 1 cyst (16 mm) | IHD (49), Emphysema (55) |
| II.8 | F | 66 (57) | NA | N (58) | US | 56 | 16 mm right kidney cyst and ∼5 simple cysts on the left kidney (largest 20 mm) | 114 / 97 | Unknown | None |
| II.10 | F | 25 (55) | 11 (55) | N (55) | US | 51 | ∼5 bilateral cysts | 86 / 81 | Unknown | None |
| II.11 | M | 16 (63) | NA | Y (57) | US | 63 | 19 mm right kidney cyst and no cysts on the left kidney | 100 / 82 | None | None |
| II.12 | M | 24 (71) | 12 (70) | Y (68) | MRI | 72 | ∼5 right kidney cysts (largest 10 mm) left pelvic kidney with 1 cyst measured 19 mm | 108 / 103 | 10 – 15 cysts (largest 5 mm) | Diverticulosis (65) Metastatic SCLC (71) |
| II.13 | M | 59 (61) | NA | N (61) | CT | 55 | ∼15 bilateral cysts (largest 62 mm) | 145 / 141 | 10 – 15 cysts (largest 8 mm) | DM, OSA, cauda equina, cortical nephrocalcinosis |
| II.14 | M | 47 (66) | 9 (63) | Y (62) | US | 66 | 1 cyst on the right kidney (measured 13 mm) and ∼ 5 left kidney cysts (largest 25 mm) | 103 / 111 | 1 cyst (11 mm) | None |
| III.6 | M | >90 (50) | <15 (49) | N (49) | US | 50 | No kidney cysts detected | 104 / 95 | None | liver haemangiomas (50) |
| III.7 | M | 78 (46) | 6 (45) | N (46) | US | 46 | No kidney cysts detected | 111 / 111 | None | None |
| III.10 | F | >90 (40) | 15 (40) | N (41) | US | 41 | 1 cyst on the right kidney (measured 23 mm) | 99 / 114 | None | None |
| III.13 | M | >90 (34) | 8 (35) | N (35) | US | 35 | 1 cyst on each kidney (largest 12 mm) | 115 / 129 | None | None |
| III.27 | F | >90 (31) | NA | N (32) | US | 32 | No kidney cysts detected | 11.2 / 10.4 | None | None |
| III.28 | F | 84 (50) | 1 (49) | N (50) | US | 50 | ∼5 bilateral cysts (largest 10 mm) | 10.2 / 10 | None | None |
| III.36 | F | >90 (29) | 5 (29) | N (29) | US | 29 | No kidney cysts detected | 11.7 / 12.1 | None | None |
| III.37 | M | >90 (25) | 3 (24) | N (25) | NA | - | Unknown | - | Unknown | None |
| Pedigree F200 (5 Individuals) | ||||||||||
| II.1 | M | ESKD (72) | 4.2 (68) | Y (60) | US | 71 | 2 cyst on the right kidney (measured 14 mm) and ∼ 6 left kidney cysts (largest 13 mm) | 84 / 94 | ∼5 cysts | NODAT (80), Meniere’s disease (65) |
| II.9 | M | ESKD (73) | NA | Y (NA) | CT | 65 | ∼5-10 bilateral cysts | 84 / 81 | Unknown | None |
| II.10 | F | 44 (72) | NA | NA | US | 65 | 2 cysts in the right kidney | 9.4 / 9 | ∼5 cysts | Diverticulosis (65) |
| II.14 | F | ESKD (87) | 37 (86)d | Y (82) | CT | 86 | ∼15 bilateral cysts (largest 40 mm) | 9.9 / 10 | > 30 scattered cysts (largest 95 mm) | None |
| III.2 | F | 25 (54) | 4.4 (9.1) | Y (50) | US | 49 | ∼5 bilateral cysts (largest 5 mm) | 11.1 / 10.3 | ∼5 cysts | None |
CKD-EPI, Chronic Kidney Disease-Epidemiology Collaboration; CT, computed tomography; DM, diabetes mellitus; eGFR, estimated glomerular filtration rate; ESKD, end-stage kidney disease; F, female; F/U, Follow-up; HTN, hypertension; ID, patient identifier; IHD, ischemic heart disease; L, left kidney; M, male; MRI, magnetic resonance imaging; N, no; NA, not available; OSA, obstructive sleep apnea; R, right kidney; uPCR, urine protein-to-creatinine ratio; US: ultrasound; Y, yes.
Expressed as ml/min per 1.73 m2 on the basis of the last data available (CKD-EPI formula).
Measured in mg/mmol.
Kidney and liver cysts were described as per available imaging technique. If a particular imaging was not performed, it is called unknown.
uACR was measured near or after progression into ESKD.