Table 1.
Pediatric cases of ADHR.
| Paper [Ref]. | Econs 1997 [8]. | Econs 1997 [8]. | Econs 1997 [8]. | Kruse 2001 [9]. | Negri 2004 [10]. | Gribaa 2010 [11]. | Gribaa 2010 [11]. | Kapelari 2015 [7]. | Sandal 2020 [12]. | Liu 2019 [13]. | Index Case |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Case report | Case VI-51 | Case VI-26 | Case VI-5 | Case#1 | Case#2 | Case V3 | Case V4 | Case 1 | Case 1 | Case 3-III1 | Case 1 |
| Sex | F | M | M | F | F | F | M | F | F | F | F |
| Genetic mutation | R176Q NM_020638.3:c.527G>A rs104894347 |
R176Q NM_020638.3:c.527G>A; rs104894347, |
R176Q NM_020638.3:c.527G>A rs104894347 |
R179Q NM_020638.3:c.536G>A; rs193922702 |
R179Q NM_020638.3:c.536G>A; rs193922702 |
R176W NM_020638.3:c.526C>T rs754201217 |
R176W NM_020638.3:c.526C>T rs754201217 |
R179Q NM_020638.3:c.536G>A; rs193922702 |
R179W NM_020638.3:c.535C>T; rs28937882 |
R176Q NM_020638.3:c.527G>A rs104894347 |
R179Q NM_020638.3:c.536G>A; rs193922702 |
| Age of onset | 14.5 y | 14 m | 19 m | 11 m | 8 m | 3 y | 5 y | 26 m | 2 y | NA | 17 m |
| Age of diagnosis | 14.5 y | 14 m | 19 m | 11 m | 8 m | 3 y | 5 y | 26 m | 13 y | 2 y | 19 m |
| H at diagnosis | N/A | 50° to 5° ple | N/A | 3° ple | 3° ple | N/A | N/A | 79 cm (−2.82 SDS) |
142 cm (−2.68 Z-score) |
NA | 68.5 cm (−4.08 SD) |
| W at diagnosis | N/A | N/A | N/A | 10° ple | N/A | N/A | N/A | 9500 g (−2.12 SDS) |
44.2 kg (−0.49 Z-score) |
NA | 7.8 kg (−2.2 SD) |
| Ca at diagnosis | 8.9 mg/dL (nv 8.8–10.8) |
9.2 mg/dL (nv 8.8–10.8) |
9.5 mg/dL (nv 8.8–10.8) |
2.53 mol/L (nv 2.44–2.7) |
9.5 mg/dL (nv 8.8–10.8) |
8.82 mg/dL (nv 8.8–10.8) |
9.62 mg/dL (nv 8.8–10.8) |
2.44 mmol/L (nv 2.3–2.7) |
9.65 mg/dL (nv 8.8–10.8) |
2.51 mmol/L (nv 2.3–2.7) |
9.2 mg/dL (nv 8.8–10.8) |
| P at diagnosis | 1.2 mg/dL (nv 4–7) |
2.1–3.3 mg/dL (nv 4–7) |
2.4 mg/dL (nv 4–7) |
1.39 mmol/L (nv 1.64–2.58) |
3 mg/dL (nv 4–7) |
2.79 mg/dL (nv 4–7) |
3.41 mg/dL (nv 4–7) |
0.63 mmol/L (nv 1.1–1.95) |
1.4 mg/dL (nv 4–7) |
2.11 mmol/L | 1.3 mg/dL (nv 4–7) |
| ALP at diagnosis | N/A | 36.5 Bodansky U (nv < 15) |
N/A | 860 U/L (nv 200–600) |
1755 U/L (nv < 640) |
190 U/L | N/A | 731 U/L (nv 200–600) |
934 IU/L | 205 U/L | 1173 U/L (nv 140–400) |
| PTH at diagnosis | N/A | 49 µL/Eq-mL (nv < 57) |
N/A | 3.8 pmol/L (nv 1.1–5.8) |
45 pg/mL (nv 15–65) |
N/A | N/A | 37.3 pg/mL (nv 10–55) |
185 pg/mL (nv 22–84) |
NA | 96 pg/mL (nv 15–65) |
|
TRP at diagnosis
(nv 85–97%) |
85% | N/A | 53% | 47.5% | N/A | N/A | N/A | 75.6% | NA | NA | 69% |
| 25-OH D at diagnosis | N/A | N/A | N/A | N/A | 16 ng/mL (nv > 30) |
N/A | N/A | 139.2 nmol/L (nv > 50) |
60 ng/mL (nv > 30) |
NA | 17 ng/mL (nv > 30) |
| FGF23 at diagnosis | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | NA | 31.8 pg/mL | NA |
| Ferritin at diagnosis | N/A | N/A | N/A | N/A | N/A | N/A | N/A | 5 μg/L (nv > 30) |
NA | NA | NA |
| Clinical features | Bone pain, osteomalacia ankle soreness, low back pain, fatigue, pseudofractures | Rachitic lesions at the wrists and knees, growth retardation | Genu valgum, decreased energy, moderately severe rickets | Rachitic rosary, metaphyseal widening, fraying and cupping of the ulna and the distal femur | Genu varum, growth retardation | Bone deformities, dental hypoplasia, frontal bossing, short stature, pectus carinatum, anterior bowing of both legs, pelvis retroversion | Bone deformities, dental hypoplasia, frontal bossing, short stature, pectus carinatum, anterior bowing of both legs | Genu varu, severe rickets, waddling gait | Rickets, short stature, pain in spine/hips/legs and difficulty in walking, kyphoscoliosis, proximal muscle weakness in all four limbs, and genu varus, deformity of bilateral lower limbs | None | Hypotonia, Rickets, growth retardation |
| Treatment | Vitamin D 50.000–100.000 U/day | Vitamin D 25.000–50.000 U/day, then vitamin D 5–25.000 U/day (vitamin toxicity) | Vitamin D 30.000–50.000 U/day At 11 ys calcitriol 0.25–0.5 mcg twice daily |
Calcitriol 0.125 mcg/day Oral phosphate 220–400 mg/day |
Oral phosphate + Calcitriol (doses not available) |
Oral phosphate (doses not available) |
Oral phosphate (doses not available) |
Oral phosphate 64 mg/kg/day Alfacalcidol 20 ng/kg/day At 8 ys iron sulfate solution |
Vitamin D and calcium till 5 y of age. Since age of 13: Phosphate 60 mg/kg/d in four divided doses and calcitriol 60 ng/kg/d in three divided doses for 6 months |
NA | Oral alfacalcidol (0.020 mcg/kg/day) and oral phosphate (30 mg/kg/day, divided in 3 doses) |
| Symptoms Resolution | No | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | NA | Yes |
|
Age at last follow-up visit
(H/W if available) |
22 ys H: 163.1 cm W: 65.9 kg |
20 ys | 19.75 ys H 178.8 cm |
8 ys | 3 ys 6 mo | 9 ys H: 138 cm |
12 ys H: 150 cm |
11.5 y H: 125.3 cm (−3.23 SDS) W: 26.2 kg (−2.2 SDS) |
13 y | NA | On going |
ALP: alkaline phosphatase; Ca: calcium; CaU/CrU: urine calcium to creatinine ratio; F: female; FGF23: fibroblast growth factor 23; H: height; m: months; M: male, N/A: not available; nv: normal values; ple: percentile; P: phosphorus; PTH: parathyroid hormone; SDS: standard deviation score; T: time (months from diagnosis); TRP: tubular phosphorus reabsorption; U: unit; W: weight; y: years; 25-OH vit D: 25-hydroxyvitamin D.