Table 2 Initial and follow-up work-ups for patients with Pearson syndrome
From: Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
Basic check-ups Physical examination including height/weight, neurological and developmental evaluation CBC with manual differentiation, MCV and reticulocyte count Clinical chemistries with electrolytes including calcium and magnesium, transaminases, BUN, creatinine, glucose, ferritin and phosphate, serum lactate Blood gas analysis Urine analysis for tubulopathy | At diagnosis and every visit |
Bone marrow examination with cytogenetic analysis* | At diagnosis and every 12 months until hematological recovery |
Endocrine screening tests such as growth chart, pubertal staging, pancreatic function (serum amylase/lipase, stool elastase), thyroid function (TSH, free thyroxine) and hemoglobin A1c | At diagnosis and every 12 months |
Cardiac evaluation including echocardiography and ultrasound | At diagnosis and every 12 months |
Abdominal ultrasound (pancreas, liver, kidney, spleen) | At diagnosis and every 12 months |
Ophthalmologic examination | At diagnosis and every 12 months |
Hearing examination | At diagnosis and every 12 months |
Provide emergency protocol |