Table 4.
Large Families With FIHP Leading to Diagnosis of an Incomplete PHPT Syndrome
| First Author | Year | No. of Cases With Initial Diagnosis of Isolated PHPT in Kindred | No. of Unaffected Carriers of Mutation | Affected Gene or Linked Locus |
|---|---|---|---|---|
| Teh (38) | 1998 | 7 | 0a | MEN1 |
| Kassem (39) | 2000 | 14 | 3 | MEN1 |
| Villablanca (40) | 2002 | 8 | 1 | MEN1 |
| Carrasco (41) | 2004 | 11 | 3 | MEN1 |
| Isakov (42) | 2013 | 8 | 0 | MEN1 |
| Carling (43) | 2000 | 20 | 0 | CASRb |
| Simonds (3) | 2002 | 11 | 0 | CASR |
| Teh (44) | 1998 | 6 | 2 | CDC73 |
| Silveira (45) | 2008 | 9c | 3 | CDC73 |
Large families were defined as having six or more members with PHPT. Diagnosis of an incomplete but complex syndrome of PHPT was based either on genetic linkage to locus of the causative gene or on mutation of CASR, MEN1, or CDC73.
a
Screening for asymptomatic carriers was not performed in studies with a designation of zero unaffected carriers, and it was incomplete in most others.
b
This family had mild hypercalcemia, hypercalciuria, and curable parathyroid tumors. Thus, they did not have FHH. This was autosomal dominant mild hypercalcemia.
c
Renal cysts and uterine leiomyomas.