Clinical and laboratory data for FIHP patients with wildtype MEN1 and HRPT2 genotypes
| 2a: Subjects with CASR sequence variations | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| ID | Age (years) at Dx/Sex (M/F) | Clinical present-ation | Se Ca2+ *NR: 2.15–2.6 mmol/l | Pre-op PTH NR: 1.3–7.6 pmol/l | Fasting** U Ca/Cr NR: 0.06–0.6 | 24 h U calcium NR: 1–7.5 mmol | Number of affected family/age at Dx (year) | PT histology (gland number), total mass (mg) and CASR sequence variation with predicted amino acid change | |
| Pre-op | Post-op | ||||||||
| F | 58/F‡ | Asympt | 2.71 | 2.13 (4 years) | 9.6 | 0.19 | 1/30(RC) | ? Mild hyperplasia (4) 362 mg 1949T>C predicting L650P | |
| G | 64/F§ | Asympt OP | 2.77 | 2.54 (4 years) | 13.3 | 0.5 | 3/63, 51, 46 | Hyperplastic nodules (3) 390 mg 2065G>A predicting V689M | |
| H | 53/F | RC | 2.90 | 5.7 | 8.5 | 2/87, 29(RC) | Surgery pending 1006–1008delAAG predicting K336del | ||
| I | 45/M† | Panc | 3.1 | 2.86 (8 months) | 6.5 | 0.29 | 2/72, 11 | PT admixed with adipose tissue (4) 900 mg 299C>T predicting T100I | |
| 2b: Subjects with wildtype CASR | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| ID | Age (years) at Dx/sex (M/F) | Clinical present-ation | Se Ca2+ *NR: 2.15–2.6 mmol/l | Pre-op PTH NR: 1.3–7.6 pmol/l | Fasting** U Ca/Cr NR: 0.06–0.6 | 24 h U calcium NR: 1–7.5 mmol | Number of affected family/ages at diagnosis (years) | PT histology (gland number) and total mass (mg) | |
| Pre-op | Post-op | ||||||||
| *corrected for serum albumin | |||||||||
| **early morning spot | |||||||||
| †hypercalcaemia persisted after surgery or recurred within 12 months of surgery | |||||||||
| ‡offspring with hypercalcaemia, hypercalciuria and nephrolithiasis | |||||||||
| §osteoporotic at presentation. | |||||||||
| ¶ionised calcium, the only level available for this subject (NR: <1.29) | |||||||||
| N/A: not available | |||||||||
| Dx, diagnosis; Se, serum; U, urinary; PT, parathyroid; asympt, asymptomatic; OP, osteoporosis; RC, renal calculus; HT, hypertension; polydip, polydipsia; panc, pancreatitis; Nucleotide and amino acid positions start from the initiation codon of CASR. | |||||||||
| J | 49/F | Asympt | 2.88 | 2.34 | 12.7 | 13.2 | 1/>50 | Adenomata (2) 1050 mg | |
| K | 23/M | Asympt | 3.1 | 2.45 | 15.0 | 0.38 | 2/54, 43 | Adenoma (1) 6000 mg | |
| L | 57/M | RC | 2.53 | 2.21 | 9.5 | 17 | 2/64, 35 | Hyperplasia (4) 390 mg | |
| M | 61/F | RC | 2.61 | 2.35 | 11 | 0.74 | 1/38 | Hyperplasia (4) 795 mg | |
| N | 46/F | Asympt | 2.62 | 2.43 | 12.9 | 5.8 | 1/30 | Adenoma (1) 320 mg | |
| O | 45/F | Asympt | 2.7 | N/A | 28.0 | 8 | 2/63, 48 | Surgery declined | |
| P | 40/F | HT | 2.73 | 2.35 | 13.9 | N/A | N/A | 2/80, 62 | Adenoma (1) 2443 mg |
| Q | 38/F | HT | 2.63 | 2.42 | 12.0 | 12.3 | 1/53 | Adenoma (1) 494 mg | |
| R | 20/M | Polydip | 3.1 | 2.15 | 50.6 | 31.9 | 1/30 | Adenoma (1) N/A | |
| S | 57/F | Asympt | 1.44¶ | 2.56 | N/A | N/A | N/A | 4/30, unknown | N/A (4+) N/A |
| T | 45/F† | Asympt | 2.9 | 3.05 | 9.9 | 5 | 4/58, 36, 32, 32 | Adenoma (1) N/A | |
| U | 71/F | Asympt | 2.77 | 2.5 | 15.1 | 0.19 | 1/90 | Benign PT (1) 205 mg | |
| V | 39/M | RC | 2.95 | 1.96 | 13.2 | 17.7 | 1/27 | Hyperplasia (5) 1209 mg | |