Table 1.
Patient one | Patient two | Patient three | |
---|---|---|---|
Gene | SDHB | SDHB | SDHD |
Gender/age | Male/14 | Male/32 | Female/45 |
Site | Post-caval | Para-aortic | Bifurcation of abdominal aorta |
Size (cm) | 5.1 × 3.4 | 3 × 2 × 2 | 2.9 × 2.7 |
Diagnosis | PGL | PGL | Hereditary PGL |
Headache | + | – | – |
Palpitation | + | – | + |
Diaphoresis | + | – | – |
Dizziness | – | – | + |
Nausea | + | – | + |
Hypertension (mmHg) | 208/156 | 160/100 | 154/75 |
Nucleotide change | c.343C>T | c.541-2A>G | c.334_337delACTG |
Mutation | P.Arg115Ter | IVS5-2A>G | p.Asp113Metfs*21 |
Mutation type | Detrimental mutation | Pathogenic | Pathogenic |
Heterozygous | Het | Het | Het |
Aldosterone (erect position/decubitus; ng/mL) | 0.254/0.257 | NA | 0.13/0.14 |
Cortisol (8/16/24 h; ng/mL) | NA | NA | 215/261/102 |
Increased E | NA | NA | NA |
Increased NE | NA | 1.89 ng/mL | NA |
VMA | 72.0 µmol/24 h | 178.36 µmol/24 h | – |
MN | 5.1 µmol/24 h | – | – |
PTH | 41.04 pg/mL | NA | NA |
17-OH | 13.5 µmol/24 h | – | – |
17-KS | 30.2 µmol/24 h | – | – |
Renin | NA | 35.71 µIU/mL; 50.38 µIU/mL (2 h after motivated) | 1.08 ng/mL0.75 ng/mL |
PRA (erect position/decubitus; ng/mL) | NA | NA | 1.08/0.75 |
Angiotensin II (erect position/decubitus; pg/mL) | NA | NA | 39/35 |
ARR (erect position/decubitus) | NA | NA | 12/18 |
ACTH (8/16/24 h; pg/mL) | NA | NA | 10.30/11.15/9.32 |
Other disease | Thyroid nodule | Atrial flutter | HNPGL; renal cyst |
Metastasis | – | – | – |
Follow-up (months) | 76 | 5 | 41 |
Outcome | NED | NED | NED |
‘+’ represented existence of this phenotype, ‘–’ nonexistence; 17-KS, 17-ketosteroid; 17-OH, 17-OH-corticosteroid; ACTH, adrenocorticotropic hormone; ARR, aldosterone renin ratio; E, epinephrine; MN, noradrenaline; NA, not available; NE, norepinephrine; NED, no evidence of disease; PRA, plasma renin activity; PTH, parathyroid hormone; VMA, vanillylmandelic acid.