Table 2 Clinical characteristics of patients of the pedigree enrolled in this study
Patients enrolled in this study | |||||||
|---|---|---|---|---|---|---|---|
II: 3 | II: 7 | II: 10 | II: 11 | III: 12 | III: 14 | IV: 5 | |
Age (y) | 65 | 58 | 54 | 50 | 40 | 36 | 12 |
Sex | male | male | female | male | female | female | male |
Neurological symptoms | |||||||
Neuropathic pain | √ | √ | / | √ | / | / | / |
Acroparaesthesia | √ | √ | / | √ | / | / | √ |
Heat or cold intolerance | / | / | / | / | / | / | / |
Fever crisis | / | / | / | / | / | / | / |
Strokes | √ | / | / | / | / | / | / |
Seizures | / | / | / | / | / | / | / |
Tegumentary symptoms | |||||||
Angiokeratoma | √ | √ | / | √ | / | / | / |
Hypohidrosis | √ | √ | / | √ | / | / | √ |
Kidney symptoms | |||||||
Chronic renal dysfunction | √ | √ | √ | √ | √ | √ | / |
Dialysis | / | √ | / | √ | / | / | / |
Haematuria | / | N | N | N | N | N | N |
Proteinuria | √ | N | N | N | N | N | N |
Cardiovascular symptoms | |||||||
Chest Pain | √ | √ | √ | √ | √ | √ | / |
Dyspnoea | √ | √ | / | √ | √ | / | / |
Syncope | / | / | / | / | / | / | / |
Hypertension | / | √ | / | / | / | / | / |
Left ventricular hypertrophy | √ | N | N | N | N | N | N |
Ophthalmologic symptoms | |||||||
Corneal opacities | / | / | / | / | / | / | / |
Gastrointestinal symptoms | |||||||
Nauseas | √ | √ | √ | √ | √ | √ | √ |
Abdominal Pain | √ | √ | / | √ | / | / | √ |
Chronic diarrhoea | √ | √ | √ | √ | √ | √ | √ |
Metabolic symptoms | |||||||
Dyslipidaemia | / | / | / | / | / | / | / |
Genotype of p. Asn278Lys site | XbY | XbY | XBXb | XbY | XBXb | XBXb | XbY |