Table 2 Changed specific clinical management of ten of 23 genetically diagnosed patients.
From: Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants
ID | Causal gene | Medication change | Surgery change | Avoid examination | Procedure change | Morbidity avoided | Mortality avoided |
|---|---|---|---|---|---|---|---|
Case 4 | SERAC1 | Vitamin cocktail and energy mixtures treatment | Monitor blood gas + liver and kidney function + muscle enzyme + hematuria metabolite | Avoided morbidity from symptomatic monitor | Yes | ||
Case 5 | IL10RA | Avoid overmuch enteroscopy | Changed to HSCT | Avoided severe diarrhea, severe malnutrition | Yes | ||
Case 8 | STXBP1 | Levetiracetam and topiramate was suggested to treat seizure, use one or in combination | Avoid potential neurological damage because of prolonged uncontrolled seizures | Yes | |||
Case 9 | KCNQ2 | Change PB to sodium valproate syrup | Yes | ||||
Case 13 | GAA | Enzyme replacement | Avoid muscle biopsy | Avoid EMG, lab biochemical test and another accessory test | Yes | ||
Case 16 | IL7R | Early prepared to HSCT | Avoid severe infection | Yes | |||
Case 17 | SCN2A | Valproate + levetiracetam | Avoid uncontrolled seizures | Yes | |||
Case 25 | TCIRG1 | Changed to HSCT | Yes | ||||
Case 32 | IFNGR1 | Changed to HSCT | No | ||||
Case 33 | CD40LG | Avoid overmuch chest radiography, head MRI | Changed to HSCT | Avoid severe infection, pneumonia progress | Yes |
