Research Article
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature
Table 1
Clinical characteristics and genetic analysis results of the patients.
| | No. | Sex | Family history | C24:C22 | C26:C22 | Cortisol (nmol/L) | ACTH (pg/mL) | Sodium (mmol/L) | Potassium (mmol/L) | Corticoid dosage | Mutation | Exon |
| | Case 1 | M | + | 1.75 | 0.089 | 3.58 | 499.3 | 128 | 5.1 | Hydrocortisone, 20 mg/d | c.874_876delGAG | 1 | | Case 1 | F | + | 1.06 | 0.033 | Nd | ND | 138 | 4.8 | None | c.874_876delGAG | 1 | | Case 2 | M | − | ND | ND | 45.4 | 1071 | 125 | 5.3 | Hydrocortisone, 30 mg/d | c.96_976delCT | 1 | | Reference range | | | <1.39 | <0.023 | 171-536 | 7.2-63.6 | 135-145 | 3.5-5.5 | Fludrocortisone | | |
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