Table 1.
Summary of clinical data
| Patient | Sex | Age,a yr | Variant | Gene | Heteroplasmy, (% in Blood | Fibroblasts | Serum Magnesium, mmol/L | Fractional Magnesium Excretion | Serum Potassium, mmol/L | eGFR, ml/min per 1.73 m2 | BP, mm Hg | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Reference range | 0.7–1.1 | <4.0b | 3.6–5.2 | >90 | <140/90 | ||||||
| 1.III.6 | F | 39 | m.4291T>C | MT-TI | 100 | | 0.40 | 6.7 | 3.6 | 82 | 140/80 | Primary hyperparathyroidism |
| 1.III.2 | F | m.4291T>C | MT-TI | 99 | | |||||||
| 1.IV.4 | M | 36 | m.4291T>C | MT-TI | 0.67 | 2.9 | 3.7 | >90 | |||
| 1.IV.5 | M | 34 | m.4291T>C | MT-TI | 97 | | 0.56 | 8.3 | 3.4 | >90 | ||
| 2.II.6 | F | m.591C>T | MT-TF | 98 | | 0.86c | 3.3c | 65 | 122/80 | |||
| 2.III.1 | F | 5 | m.591C>T | MT-TF | 0.73 | 3.2 | >90 | ||||
| 2.III.2 | M | 10 | m.591C>T | MT-TF | 0.55 | 9.0 | 3.0 | >90 | 125/71 | ||
| 2.III.4 | M | 8 | m.591C>T | MT-TF | 0.71c | 13 | 3.6 | >90 | 151/89 | ||
| 2.III.5 | F | m.591C>T | MT-TF | 99 | | 0.48 | 7.8 | 3.0 | >90 | 114/65 | ||
| 3.I.2 | F | 50 | m.643A>G | MT-TF | 0.70 | 7.9 | 3.6 | 35 | |||
| 3.II.2 | F | 22 | m.643A>G | MT-TF | 0.52 | 4.9 | 3.3 | 32 | 120/73 | Albuminuria | |
| 3.II.4 | F | 21 | m.643A>G | MT-TF | 0.66 | 4.2 | 3.1 | 55 | |||
| 3.II.5 | F | 14 | m.643A>G | MT-TF | 2.9 | ||||||
| 3.III.1 | F | 2 | m.643A>G | MT-TF | 0.76c | 8.2 | 4.1 | 30 | 98/54 | Albuminuria and elevated RBP. Renal biopsy performed | |
| 3.III.2 | F | 1 | m.643A>G | MT-TF | 0.48 | 8.5 | 3.0 | >90 | Albuminuria and elevated RBP | ||
| 3.III.3 | F | m.643A>G | MT-TF | 0.61 | 4.3 | ||||||
| 4.I.2 | F | m.4291T>C | MT-TI | 97 | 100 | 0.52 | 4.3 | 3.4 | >90 | 125/78 | ||
| 4.II.2 | F | 15 | m.4291T>C | MT-TI | 100 | 100 | 0.42c | 5.3 | 4.2 | >90 | 113/72 | |
| 5.III.6 | F | 3 | m.591C>T | MT-TF | 0.10 | 10.1 | 3.6 | 75 | 123/67 | Requires subcutaneous magnesium supplementation. Salt craving | |
| 5.II.1 | M | 70 | m.591C>T | MT-TF | 0.40 | 4.9 | 65 | ||||
| 5.III.2 | F | 34 | m.591C>T | MT-TF | 0.40 | 6.4 | 3.1 | >90 | 149/91 | ||
| 5.III.4 | F | 32 | m.591C>T | MT-TF | 0.73 | 2.8 | 3.7 | >90 | 157/98 | ||
| 5.III.5 | M | 42 | m.591C>T | MT-TF | 0.30 | 12.1 | 2.4 | 77 | 197/105 | ||
| 5.IV.1 | F | m.591C>T | MT-TF | 0.70 | 3.9 | >90 | 133/80 | ||||
| 5.IV.2 | M | m.591C>T | MT-TF | 0.80 | 3 | 3.9 | >90 | 149/63 | |||
| 6.I.2 | F | m.591C>T | MT-TF | 26 | Salt and spicy food craving | ||||||
| 6.II.1 | M | 12 | m.591C>T | MT-TF | 0.44c | 9.5 | 3.1 | >90 | 120/80 | Salt and spicy food craving. High renin and aldosterone | |
| 6.II.2 | F | 10 | m.591C>T | MT-TF | 0.63c | 8.1 | 3.3c | >90 | 110/70 | Salt and spicy food craving. High renin and aldosterone | |
| 7.I.2 | F | 33 | m.591C>T | MT-TF | 0.56 | 5.5 | 2.8 | >90 | 128/82 | High renin | |
| 7.II.1 | F | 8 | m.591C>T | MT-TF | 0.74 | 3.3 | >90 | 101/66 | |||
| 8.II.1 | F | 18 | m.591C>T | MT-TF | 100 | | 0.54c | 2.7c | 113/65 | High renin | ||
| 9.III.1 | F | 40 | m.591C>T | MT-TF | 0.51 | 4.0c | >90 | 100/50 | Orthostatic hypotension, m. Winiwater–Buerger, migraine, Wolff–Parkinson–White syndrome | ||
| 10.II.3 | F | 39 | m.591C>T | MT-TF | 100 | | 0.59c | 5 | 3.2 | 50 | 122/70 | Transient mild thrombopenia. Osteopenia |
| 10.I.2 | F | m.591C>T | MT-TF | 0.68 | 4 | 4.5 | 24 | Primary hyperparathyroidism. Mild thrombopenia. CVA (2×). BP controlled with three antihypertensives. Osteopenia | |||
| 11.II.1 | F | m.4291T>C | MT-TI | 100 | | 0.52 | 7.5 | 3.4c | >90 | 142/95 | ||
| 12.II.1 | M | 46 | m.4291T>C | MT-TI | 0.56 | 8.3 | 4.5 | >90 | |||
| 13.II.3 | M | 27 | m.616T>C | MT-TF | 0.54c | 4.0 | 39 | 120/60 | |||
| 13.III.2 | M | 21 | m.616T>C | MT-TF | 0.60c | 3.8c | 56 |
Summary of clinical data of patients with causative mtDNA variants in MT-TI or MT-TF. If values were outside measurement limits, the value was set equal to the measurement limit. If multiple measurements were available, the first measurement was taken in the case of serum magnesium, serum potassium, and FEMg, whereas the last available measurement was taken in the case of eGFR. eGFR was calculated with CKD-EPI, except for individuals below the age of 19, in which case the Schwartz formula was used. For conversion of serum magnesium (mmol/L) to (mg/dl), multiply by 2.43. FEMg is calculated by: serum creat×urinary Mg/(serum Mg×urinary creat)×100%.
Age at presentation.
Upper limit of normal for FEMg applies to hypomagnesemic individuals only and is on the basis of Elisaf et al.75
With supplementation of magnesium or potassium.