Table 4.

Details of effect on management (L1 and L2) among patients with diagnostic results

Patient IdentifierL1/L2Initial DiagnosisChanged DiagnosisVariant FoundEffect on Management
RGC-0030L1Infantile nephrotic syndromeNPHS2Avoidance of immune suppression
RGC-0034L1Atypical HUSWT1Bilateral nephrectomy, pelvic MRI, tapering eculizumab
RGC-0046L1Positive family history of infantile nephrotic syndromeNPHS2Avoidance of immune suppression
RGC-0047L1Infantile nephrotic syndromeNPHS2Avoidance of immune suppression
RGC-0054L1Nephrotic-range proteinuriaPLCE1Avoidance of immune suppression
RGC-0066L2Townes–Brocks syndromeUSP9X-related disorderUSP9X
RGC-0068L2FSGSLowe syndromeOCRL
RGC-0070L2Developmental delay and kidney problemNephronophthisisNPHP4
RGC-0080L1ARPKD/ADPKDPKHD1Pseudodominant ARPKD
RGC-0083L1, L2FSGSAlport syndromeCOL4A5Avoidance of immune suppression
RGC-0084L1Mitochondrial diseaseRMND1Kidney transplantation is indicated for patients with RMND1 variants if needed
RGC-0105L2Nephrotic syndromeAlport syndromeCOL4A4
RGC-0108L1, L2Proteinuria/Alport syndromeDent syndromeOCRLAvoidance of immune suppression, management related to Dent disease
RGC-0113L2CAKUTADPKDPKD2
RGC-0118L1, L2CAKUTBartter syndromeKCNJ1Indomethacin treatment recommended and DEXA bone scan showed low bone density
RGC-0143L1Nephrotic syndromeNPHS1Avoidance of immune suppression
RGC-0145L2Polycystic kidney diseaseNephronophthisisNEK8Clinical diagnosis of ARPKD was changed to nephronophthisis
RGC-0164aL2Cystic kidney disease17q12 deletion syndromeHNF1B and BRCA2Secondary finding of BRCA2
RGC-0171L1ProteinuriaWT1-associated diseaseWT1Followed by cancer prevention clinic
RGC-0182L2FSGSAlport syndromeCOL4A5
RGC-0185L1HypomagnesemiaTRPM6Hypocalcemia and hypomagnesemia are due to defect in intestinal absorption of magnesium
RGC-0186L1Wilms tumorWT1-associated syndromeAffected surgical nephrectomy of patient
RGC-0190L1Renal failure, proteinuriaWT1-associated syndromeWT1CMA revealed patient is XY female. Risk of gonad blastoma in an XY female patient was discussed
RGC-0191L1Periodic hypokalemic paralysisCACNA15Treatment with Acetazolamide
RGC-0192L2CKDAlport syndromeCOL4A5
  • L1, effect on medical and/or surgical treatment; L2, change of medical diagnosis; HUS, hemolytic uremic syndrome; MRI, magnetic resonance imaging; ARPKD, autosomal recessive polycystic kidney disease; ADPKD, autosomal dominant polycystic kidney disease; CAKUT, congenital anomalies of the kidney and urinary tract; DEXA, dual-energy x-ray absorptiometry; CMA, chromosomal microarray.

  • ↵a Patient had a secondray finding of pathogenic variant in BRCA2.