Table 1

Summary of patients examined in the present study

PatientsHypoparathyroidism/hypocalcaemiaSensorineural deafnessRenal lesion
CaseAge1-150(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)FindingsAssessment (age at Dx)
A/II.1Neonatal1.85NENETransient (6 d)>105 (B) on ABRYes (5 mth)Pelvicalyceal deformity (B)Yes (13 mth)
B/II.431.453.51UndetectedYes (1 mth)>90 (B) on ABRYes (3 y)Gross renal scar (L)Yes (3 y)
VUR grade 4 (R) and 5 (L)
C/II.191.252.5518.0Yes (2.5 y)90–100 (B) on ABRYes (2.7 y)Renal aplasia (R)Yes (2.7 y)
VUR grade 2 (L)
Pelvicalyceal deformity (L)
D/II.1141.852.13UndetectedYes (1.4 y)40–50 (B) on AMYes (7 y)Pelvicalyceal deformity (B)Yes (7 y)
E/III.1461.202.07UndetectedYes (39 y)70 (B) on AMYesRenal hypoplasia (L)Yes (36 y)
(childhood)CRF, on dialysis
 II.3(80)1-153 NENENEUncertainNEUncertainCRF, on dialysisYes (50s)
 II.4(85)1-153 NENENEUncertainNEUncertainCRF, on dialysisYes (70s)
 II.5(80)1-153 1.751.8115.0Yes (72 y)NEProbable1-160 Renal hypoplasia (L)Yes (67 y)
(childhood)CRF, on dialysis
F/II.2271.452.16UndetectedYes (25 y)40–50 (B) on AMYes (27 y)Renal aplasia (R)Yes (27 y)
 I.1571.751.812.0Yes (57 y)60–70 (R) andYesNormal on ultrasoundNo
>110 (L) on AM(childhood)
 III.122.551.6814.0NoNormal on ABRPossible1-164 Normal on ultrasound and urine analysisNo
G/II.2332.031-154 1.131-154 UndetectedYes (3 y)NEProbable1-160 Proteinuria & haematuriaProbable (20s)
 III.232.201.7420.0NoNormal on ABRPossible1-164 Normal on ultrasound and urine analysisNo
H/II.1191.133.16UndetectedYes (14 y)30–40 (B) on AMYes (10 y)Renal aplasia (R)Yes (14 y)
I/III.1101.152.78UndetectedYes (1 mth)>105 (B) on ABRYes (10 mth)CRFYes (7 y)
 II.560NENENEUncertainNEUncertainCRF, on dialysisYes (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.