Table 5.
Large Series of Kindreds and Probands With FIHP and With Mutation Testing of Probands in Each Member of a Three-Gene Panel
| First Author | Year | No. of Kindreds or Probands | Median No. of PHPT Cases per Kindred | Average Age (y) | Average Serum Calcium Level (mM)a | No. of Mutated Genes in a Proband | |||
|---|---|---|---|---|---|---|---|---|---|
| CASR | MEN1 | CDC73 | None | ||||||
| Warner (4) | 2004 | 22 | 2 | 47 | 2.8 | 4 | 5 | 0 | 13 |
| Cetani (46); Pardi (47) | 2006; 2017 | 15 | 2 | 44 (46) | NA | 0 | 3 | 1 | 11 |
| Simonds (3); Simonds (48) | 2002; 2004 | 40 | 2 | 39 (3) | 3.1 (3) | 5 | 0 | 1 | 34 |
| Total probands in three studies, no. (%) | 77 (100) | 9 (12) | 8 (10) | 2 (3) | 56 (75) | ||||
Abbreviation: NA, not available.
a
Normal serum calcium range, 2.05–2.52 mM.