Table 1 Clinical and molecular findings of the proband and first-degree relatives
From: Many pitfalls in diagnosis of acute intermittent porphyria: a case report
| Â | Family | Age (years) | Clinical status | HMBS gene mutation |
|---|---|---|---|---|
A | Proband | 33 | Symptomatic | Present (heterozygous) |
B | Mother | 65 | Hypertension, Impaired renal function | Present (heterozygous) |
C | Brother | 35 | Asymptomatic | Present (heterozygous) |
D | Sister | 31 | Asymptomatic | Absent |
E | First son | 3.5 | Asymptomatic | Present (heterozygous) |
F | Second son | 2.5 | Asymptomatic | Present (heterozygous) |