Table 2.

Five probands in whom early genetic diagnosis could have affected clinical care

FamilyGeneGender, EthnicityAge at Presentation/Age at ESRDClinical DetailsBiopsy (if done)Retrospective or Prospective Implications after WES
B2404AGXTFemale, Indian2 mo/2.5 mo• Presented with advanced CKD in infancyNone• Early initiation of daily hemodialysis to decrease risk for systemic oxalosis
• Initial work-up included normal serum oxalate level• Earlier listing for combined liver-kidney transplantation
• Presumed diagnosis of renal dysplasia
• PH1 diagnosis made at 1 yr of age during evaluation for LRD transplant
B188NPHS2Female, white3 yr/12 yr• Presented with edema, proteinuria, and hypoalbuminemiaFSGS• Avoidance of pretransplant IS and pheresis catheter placement
• Treatment with steroids, cyclophosphamide, cyclosporine, and ACE inhibitors• Using a lower-risk (e.g., steroid minimization) protocol for IS given low risk for recurrence
• Received plasmapheresis before transplantation to reduce risk of FSGS recurrence8,39-41
B354PLCE1Male, Pakistani12 mo/15 mo• Presented with edema and proteinuriaBiopsy 1: mesangial proliferative GN• Avoidance of pretransplant IS (steroids and cyclosporine)
• No response to steroids or calcineurin inhibitorsBiopsy 2: DMS
B2559TRPC6Female, white11 yr/11 yr• Presented with malignant hypertension, anemia, thrombocytopenia, and elevated LDHGlobal and segmental sclerosis, tubular atrophy, interstitial fibrosis• No need for treatment with eculizumab
• Received treatment with eculizumab because of concern for atypical HUS and initiated on hemodialysis• Genetic counseling given autosomal dominant inheritance and 50% risk of passing along mutant allele
B92WT1Female, white4 yr/13 yr• Treatment with steroids, cyclophosphamide, and ACE inhibitorsFSGS• Earlier initiation of hormone therapy and prophylactic gonadectomy
• Gonadal dysgenesis diagnosed at 18 yr of age during work-up for primary amenorrhea
  • LRD, living related donor; ACE, angiotensin-converting enzyme; IS, immunosuppression; DMS, diffuse mesangial sclerosis; LDH, lactate dehydrogenase; HUS, hemolytic uremic syndrome.