Summary of patients examined in the present study
| Patients | Hypoparathyroidism/hypocalcaemia | Sensorineural deafness | Renal lesion | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case | Age1-150(y) | Ca1-151 (mmol/l) | P1-151(mmol/l) | Intact PTH1-151(ng/l) | Assessment (age at Dx) | Hearing level1-152(dB) | Assessment (age at Dx) | Findings | Assessment (age at Dx) | ||||
| A/II.1 | Neonatal | 1.85 | NE | NE | Transient (6 d) | >105 (B) on ABR | Yes (5 mth) | Pelvicalyceal deformity (B) | Yes (13 mth) | ||||
| 1.5 | 2.40 | 2.00 | 6.0 | ||||||||||
| B/II.4 | 3 | 1.45 | 3.51 | Undetected | Yes (1 mth) | >90 (B) on ABR | Yes (3 y) | Gross renal scar (L) | Yes (3 y) | ||||
| VUR grade 4 (R) and 5 (L) | |||||||||||||
| C/II.1 | 9 | 1.25 | 2.55 | 18.0 | Yes (2.5 y) | 90–100 (B) on ABR | Yes (2.7 y) | Renal aplasia (R) | Yes (2.7 y) | ||||
| VUR grade 2 (L) | |||||||||||||
| Pelvicalyceal deformity (L) | |||||||||||||
| D/II.1 | 14 | 1.85 | 2.13 | Undetected | Yes (1.4 y) | 40–50 (B) on AM | Yes (7 y) | Pelvicalyceal deformity (B) | Yes (7 y) | ||||
| E/III.1 | 46 | 1.20 | 2.07 | Undetected | Yes (39 y) | 70 (B) on AM | Yes | Renal hypoplasia (L) | Yes (36 y) | ||||
| (childhood) | CRF, on dialysis | ||||||||||||
| II.3 | (80)1-153 | NE | NE | NE | Uncertain | NE | Uncertain | CRF, on dialysis | Yes (50s) | ||||
| II.4 | (85)1-153 | NE | NE | NE | Uncertain | NE | Uncertain | CRF, on dialysis | Yes (70s) | ||||
| II.5 | (80)1-153 | 1.75 | 1.81 | 15.0 | Yes (72 y) | NE | Probable1-160 | Renal hypoplasia (L) | Yes (67 y) | ||||
| (childhood) | CRF, on dialysis | ||||||||||||
| F/II.2 | 27 | 1.45 | 2.16 | Undetected | Yes (25 y) | 40–50 (B) on AM | Yes (27 y) | Renal aplasia (R) | Yes (27 y) | ||||
| I.1 | 57 | 1.75 | 1.81 | 2.0 | Yes (57 y) | 60–70 (R) and | Yes | Normal on ultrasound | No | ||||
| >110 (L) on AM | (childhood) | ||||||||||||
| III.1 | 2 | 2.55 | 1.68 | 14.0 | No | Normal on ABR | Possible1-164 | Normal on ultrasound and urine analysis | No | ||||
| G/II.2 | 33 | 2.031-154 | 1.131-154 | Undetected | Yes (3 y) | NE | Probable1-160 | Proteinuria & haematuria | Probable (20s) | ||||
| (childhood) | |||||||||||||
| III.2 | 3 | 2.20 | 1.74 | 20.0 | No | Normal on ABR | Possible1-164 | Normal on ultrasound and urine analysis | No | ||||
| H/II.1 | 19 | 1.13 | 3.16 | Undetected | Yes (14 y) | 30–40 (B) on AM | Yes (10 y) | Renal aplasia (R) | Yes (14 y) | ||||
| I/III.1 | 10 | 1.15 | 2.78 | Undetected | Yes (1 mth) | >105 (B) on ABR | Yes (10 mth) | CRF | Yes (7 y) | ||||
| II.5 | 60 | NE | NE | NE | Uncertain | NE | Uncertain | CRF, on dialysis | Yes (50s) | ||||
R, right; L, left; B, bilateral; NE, not examined; PTH, parathyroid hormone; Dx, diagnosis; dB, decibels; ABR, auditory brainstem response; AM, audiometry; VUR, vesicoureteral reflux; CRF, chronic renal failure.
↵1-150 Present age.
↵1-151 Reference value: Ca, 2.18–2.53 mmol/l; P, 0.77–1.39 mmol/l in adults and 1.23–2.10 mmol/l in children; and intact PTH, 10–65 ng/l.
↵1-152 Degree of hearing loss: normal, ⩽25 dB; mild, 26–40 dB; moderate, 41–55 dB; moderately severe, 56–70 dB; severe, 71–90 dB; and profound, >90 dB.13
↵1-153 Age at death.
↵1-154 On treatment.
↵1-160 Using hearing aids.
↵1-164 Clinically suspected because of speech delay.