Table 2.
Diagnostic and family history details of PKD1 patients with mosaicism
| Proband Diagnosis | Family History | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Pedigree | Subject | Age (y) | Why | Initial Molecular | Confirmed Molecular | Father | Mother | Sibs | Children | Comments |
| Variant transmitted | ||||||||||
| 590013 | II-2 | 28 | Pregnancy, US | FH/ Sanger | tNGS | 80y†, PC, 79y BRC | 87, no PKD Dx | 2, no PKD Dx | 1 +ve, HALTA, III-1 | Father had some cysts |
| 690020 | II-2 | 61 | severe HTN, US | FH/Sanger | LR-NGS | >90y, no PKD Dx | ~40y LTFU, no PKD Dx | 2, no PKD Dx | 1 +ve, HALTA, III-1 2GD, +ve US 19y & <19y |
Father reported kidney & AAA problems |
| 870348 | II-2 | 44 | HTN, enlarged kidneys | tNGS | Sanger/AS-PCR | No PKD Dx | No PKD Dx | 2, no PKD Dx | 1 +ve 26y, 1 untested | |
| 590046 | II-4 | 46 | NA | FH/Sanger | LR-NGS | −ve US 78y | −ve US 76y | 2 −ve US, 50, 37y, 2† other causes | 2 +ve 16, 11y, 1 –ve US 10y, 1 RF untested | Brother† encephalopathy, sister MRKH, III-4, PH |
| 390010 | II-2 | 39 | Pain, US | FH/LR-NGS | AS-PCR | 76y† cardiac, no PKD Dx | 80y† No PKD Dx | 2, no PKD Dx, 1† accidental | 1 +ve, HALT A, 1, BRC, LTFU, | |
| Single affected individual | ||||||||||
| 790057 | II-2 | 30 | HTN, MR | MLPA | tNGS | no PKD Dx | no PKD Dx, stones | 3, no PKD Dx | 2, NT PKD | |
| 590039 | II-4 | 32 | Pain, imaging | MLPA | tNGS/CNV | 68y† no PKD Dx | 74y, no PKD Dx | 4, no PKD Dx, 1 sister liver cysts | 1, no PKD Dx | Distant relatives with PKD? |
| M484 | II-8 | 37 | Fullness, possible mass, imaging | 2x NGS | Sanger | 50y† EtOH, no PKD Dx | no PKD Dx | 6, no PKD Dx | 2, no PKD Dx | |
| M375 | II-3 | 26 | CT, Pain | Sanger | LR-NGS | †MI, no PKD Dx | 2 liver cysts | 3, no PKD Dx | None | |
| 290001 | II-1 | 42 | US | 2x NGS | Sanger | No PKD Dx | no PKD Dx | None | 2 −ve US, 20y, 14y, 1 untested | |
| 870005 | II-2 | 43 | Pain, imaging | tNGS | Sanger | †melanoma, no PKD Dx | no PKD Dx | 1, no PKD Dx | 3, untested | |
| M646 | II-3 | 53 | HTN, US | tNGS | Sanger | no PKD Dx | no PKD Dx | 4, no PKD Dx | 1, no PKD Dx | |
| 870452 | II-2 | 45 | HTN, flank pain, imaging | tNGS | Sanger | no PKD Dx, 76y | no PKD Dx, 75y | 1, no PKD Dx, 57y | 1 −ve US, 2 untested | Grandfather ESRD 75y |
| M1312 | II-2 | 25 | Pregnancy US | tNGS | AS-PCR | −ve US | −ve US | 1, −ve US | 4 untested | 6mm kidney stone |
| 290034 | II-3 | 56 | Hematuria, imaging | 2x NGS | Sanger | 77y†, no PKD Dx | no PKD Dx | 2, no PKD Dx | 1 no PKD, 1 untested | |
| M1327 | II-2 | 46 | Cyst hemorrhage | tNGS | Sanger | −ve US, 70s, MND | −ve US, 70s, MND | 2, no PKD Dx | 3 untested | |
| M855 | II-4 | 38 | Pain, US | Sanger | LR-NGS | −ve US, 72y | −ve US, 68y | 3, no PKD Dx | 3 no PKD Dx | |
| 290084 | II-7 | 44 | HTN, CT | 2x NGS | AS-PCR | no PKD Dx, 83y | no PKD Dx, 77y | 6, no PKD Dx | 2 no PKD Dx | |
| M174 | II-1 | 64 | Fullness, CT | 2x NGS | Sanger | 78y†, no PKD Dx | 94y†, no PKD Dx | 2, no PKD Dx | 1 adopted | |
| 290114 | II-1 | 35 | Stones, HTN, MR | 2x NGS | Sanger | no PKD Dx | no PKD Dx | None | 3 no PKD Dx | |
US, ultrasound; HTN, hypertension; FH, family history; 2x NGS, both the LR- and tNGS methods; PC, pancreatic cancer;
†
, died;
BRC, bilateral renal cysts; EtOH, alcoholic; MI, myocardial infarction; MND, mutation not detected; LTFU, lost to follow up; RF, reflux; AAA, abdominal aortic aneurysm, MRKH, Mayer Rokitansky, Küster Hauser syndrome; PH, prenatal hydrocephalous; y, years; GD, granddaughter; CT, computer tomography; MR, magnetic resonance; Dx, diagnosis