Table 1.
Clinical and biochemical features of index cases and affected family members
| Age (years)a | Gender | Presentation | Initial Ultrasound Findings | FEUr (%) | Age at RRT (years) | Age at Tx (years) | Age at Death (years) | Genotype | |
|---|---|---|---|---|---|---|---|---|---|
| Index cases | |||||||||
| AIII.4 | 47 | F | HT, CKD, polyuria, polydipsia | “Small kidneys” | 54 | 55 | Indel | ||
| BII.4 | 43 | M | HT, CKD3, proteinuria | “Small kidneys” | 48 | 50 | Indel | ||
| CIV.3 | 35 | M | Asymptomatic, normal biochemistryb | “Normal” (at 30 years) | 9.2 | Indel | |||
| DIII.3 | 46 | F | HT, CKD4, recurrent UTI | “Normal IVU” (at 46 years) | 52 | Indel | |||
| Family members | |||||||||
| AII.1 | 50 | F | HT, “chronic nephritis,” CVAc | 50 | NK | ||||
| AII.2 | NK | M | HT, CKD, LVF | 68 | NK | ||||
| AII.3 | 45 | F | “Died of renal failure” | 45 | NK | ||||
| AII.5 | 61 | F | HT, CKD5 | Small kidneys (“like walnuts”) | 61 | 63 | 63 | NK | |
| AIV.8 | 28 | F | Asymptomatic, urate 0.37 mmol/L,d otherwise normal biochemistryb | 8.0 | Indel | ||||
| BI.1 | 49 | M | “Died of renal failure” | 49 | NK | ||||
| BII.1 | 51 | M | HT, CKD4, proteinuria (NB has diabetes) | Left 10.5 cm, right 10 cm | NK | ||||
| BII.3 | 38 | F | HT, CKD5 | 38 | 48 | 51 | NK | ||
| BII.5 | 41 | F | HT, CKD | 43 | NK | ||||
| BII.6 | 39 | F | CKD, polydipsia, proteinuria, recurrent UTI | Left 8.3 cm, right 8.5 cm | 41 | 44 | Indel | ||
| CII.1 | NK | M | Malignant HT, CKD, anaemia | 47 | NK | ||||
| CII.2 | NK | F | HT, “chronic pyelonephritis” MI | NK | 46 | NK | |||
| CIII.1 | 57 | M | HT, CKD3, polyuria, gout | Left 9.5 cm, right 10.5 cm | 67 | 68 | Indel | ||
| CIII.2 | 60 | M | HT, CKD 4, proteinuria | Horseshoe kidney | 65 | Indel | |||
| CIV.4 | 34 | M | HT, CKD3 | Left 11.8 cm, right 10.8 cm | Indel | ||||
| CIV.5 | 30 | F | Asymptomatic, normal biochemistryb | Both 10.7 cm | 13.5 | Indel | |||
| DII.3 | NK | F | “Uremic seizures” | 52 | NK | ||||
| DII.5 | NK | F | “Uremia” | 59 | NK | ||||
| DII.7 | NK | M | “Uremia” | 47 | NK | ||||
| DI.8 | 49 | F | Malignant HT, “uremia” | 49 | NK | ||||
| DIII.1 | 50 | M | HT, CKD4 | 53 | 63 | NK | |||
| DIII.5 | NK | F | HT, CKD | 59 | 68 | NK | |||
| DIV.2 | NK | F | HT, CKD | 49 | Indel |
CKD, chronic kidney disease; CVA, cerebrovascular accident; FEUr, fractional excretion of urate, which is equal to [(urine urate × serum creatinine)/(serum urate × urine creatinine)] × 100%; HT, hypertension; IVU, intravenous urogram; LVF, left ventricular failure; MI, myocardial infarction; NK, not known; RRT, renal replacement therapy; Tx, transplant; UTI, urinary tract infection.
a
Age at first presentation.
b
Serum sodium, potassium, estimated GFR, venous bicarbonate, corrected calcium, phosphate, urate.
c
Clinical information in quotation marks is from historical documents or patient recollection.
d
Normal range, 0.15 to 0.35 mmol/L.