Test | Frequency | |
Blood chemistry | Renal function tests: BUN, creatinine, electrolytes (Na, K) | Every six months unless abnormal |
Liver function tests: ALT, AST, ALP, bilirubin, albumin | Every six months unless abnormal | |
Bone profile: Ca, P, albumin, ALP, Vit D, PTH | Every six months unless abnormal | |
Trace elements: Zn, selenium, Mg, Cu, Ag | Annually unless abnormal | |
Vitamins (B1, B2, B3, B12, C, A) | Annually unless abnormal | |
Total iron-binding capacity or transferrin, serum iron, ferritin, soluble transferrin receptor | Every three to six months depending upon degree of anemia and iron or transfusion requirements | |
Urine dipstick test, protein and blood | At each visit | |
24-hour urine collection for albumin/creatinine ratio, protein excretion, creatinine clearance | If renal function test is abnormal | |
Hematology | Full blood cell count | Every three to six months depending upon the degree of anemia |
Red cell folate, serum folate | Annually | |
Radiology | Radiograph: lateral thoracic and lumbar spine | Annually from the age of four years |
Whole spine dual energy radiograph absorptiometry (DEXA) scan | Annually | |
Radiograph of left hand | If evaluation of bone age is indicated | |
Echocardiogram for heart muscle | Annually from the age of two years | |
Renal ultrasound for ureteric effects | Annually in patients with JEB and JEB-PA | |
Microbiology | Wound swab | If with clinical evidence of infection |
Urine culture | If with positive dipstick | |
Endocrinology (in cases of pubertal delay) | Female: LH, FSH, estradiol; pelvic ultrasound to assess ovaries and uterus if indicated | As required for delayed puberty |
Male: LH, FSH, testosterone |
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