Table 1.
Renal manifestations in reported HNF1B patients
| Pedigree ID (sex) | Family 1 |
Family 2 |
Family 3 |
Family 4 |
Family 5a |
Family 6 |
Family 7 |
||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I-1 (M) | II-1 (M) | II-1 (M) | I-1 (M) | II-1 (F) | I-2 (F) | II-1 (F) | III-1a (M) | II-2a (F) | II-3a (F) | I-1 (M) | II-1 (F) | II-1 (M) | |
| First evaluation (age) | 56 yr | 2 yr | 28 yr | 26 yr | 28 yr | 16 yr | 47 yr | 47 yr | 23 yr | 18 yr | |||
| Serum creatinine (mg/dl) | 0.80 | 0.8 | 2.27 | 1.78 | N/A | 1.32 | N/A | 1.4 | 1.2 | 1.04 | 1.2 | N/A | 1.5 |
| eGFRb (ml/min per 1.73 m2) | 99 | 46c | 38 | 51.5 | 54 | 73.9 | 53.8 | 63.9 | 84.7 | 67 | |||
| Suspected diagnosis at presentation | ADPKD | NPH | NPH | ADTKD | N/A | ADTKD | N/A | ARPKD | MCKD | MCKD | CAKUT/MSK | NC | NPH |
| Last follow-up (age) | 77 yr | 35 yr | 54 yr | 48 yr | 19 yr | 38 yr | 9 yr | 25 yr | 58 yr | 57 yr | 51 yr | 16 yr | 38 yr |
| Serum creatinine (mg/dl) | 1.5 | 2.17 | 4.3 | 5.5 | 0.96 | 1.49 | 0.72 | 1.56 | 1.41 | 1.20 | 1.2 | 1.0 | 2.36 |
| eGFRb (ml/min per 1.73 m2) | 44.3 | 38 | 14.4 | 12 | 114.4 | 44 | >75c | 60.8 | 41 | 50.3 | 69.6 | 110 | 33.7 |
| Hyperuricemia/gout | Yes/no | No/no | Yes/yes | Yes/no | Yes/no | Yes/no | No/no | No/no | No/no | No/no | No/no | No/no | No/no |
| Magnesemia (n.v. 0.66−1.07 mEq/l) | 0.70 | 0.60 | 0.31 | 0.56 | 0.61 | 0.60 | 0.66 | 0.78 | 0.75 | 0.90 | 0.66 | 0.90 | |
| Kalemia/serum calcium (K+ n.v. 3.5−5.3 mEq/l) (Ca++ n.v. 9.3−10.6 mg/dl) |
3.4/9.3 | 3.6/9.5 | 3.1/6.79 | 3.3/9.6 | 3.3/9.9 | 3.6/9.36 | 3.6/10.6 | 5.1/10 | 4.9/8.4 | 4.9/9 | 3.8 /8.4 | 4,8/9.7 | 4.9/10.1 |
| Renal biopsy (age) | No | Yesd (2 yr) | Yesd (28 yr) | No | No | No | No | No | No | No | No | No | Yesd (31 yr) |
| Other renal features | No | POL | No | No | No | No | No | 11POL 12NDI | No | No | No | No | No |
| Type of HNF1B nephropathy | ADTKD | Early-onset ADTKD |
ADTKD | ADTKD | ADTKD | ADTKD | ADTKD | Early-onset ADTKD |
RCAD (ADTKD) | RCAD (ADTKD) | CAKUT/MSK | NC/MSK | ADTKD |
ADPKD, autosomal dominant polycystic kidney disease; ADTKD, autosomal dominant tubulo-interstitial kidney disease; ARPKD, autosomal recessive polycystic kidney disease; CAKUT, congenital anomalies of kidney and urinary tract; DI, nephrogenic diabetes insipidus; eGFR, estimated glomerular filtration rate; ESRD, end-stage renal disease; F, female; M, male; MCKD, medullary cystic kidney disease; MSK, medullary sponge kidney; N/A, not available; NC, nephrocalcinosis; No, absent; NPH, nephronophthisis; n.v., normal value; POL, polyuria in infancy; RCAD, renal cysts and diabetes; Yes, present.
Patients reported in Izzi et al.8
eGFR calculated with Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) formula.
eGFR calculated with Schwartz formula.
Renal biopsy findings: interstitial fibrosis and tubular atrophy.