Child Kidney Dis > Volume 29(2); 2025 > Article |
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Genetic testing should be considered in the following situations: |
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1. Positive family history of kidney disease, particularly in first-degree relatives [5,14] |
2. Early-onset disease, including pediatric CKD [5,14] |
3. Clinical presentation consistent with monogenic etiology, such as congenital/cystic nephropathies or steroid-resistant nephrotic syndrome [5] |
4. Undiagnosed multisystem syndromes [5,14] |
5. Potential impact of test results on treatment decisions [14] |
6. Kidney biopsy findings suggestive of a genetic etiology [14] |
· Focal segmental glomerulosclerosis without a clear secondary cause |
· Glomerular basement membrane abnormalities suggestive of collagen IV nephropathy |
· Thrombotic microangiopathy or idiopathic MPGN |
· Lipidoses |
7. CKD of unknown cause [5,14] |
· Biopsy not feasible due to disease stage or suggestive clinical findings [5] |
· Age of onset <50 years [14] |
· Diagnosis may guide management of extrarenal manifestations [14] |
8. Unexplained electrolyte abnormalities [14] |
9. Patients at high risk for kidney biopsy in whom clinical and family history strongly suggest a genetic etiology [5] |
10. Need for guidance on immunosuppressive therapy, e.g., in steroid-resistant or partially responsive nephrotic syndrome [5] |
11. Prognostic value, such as predicting age of ESKD onset in ADPKD or Alport syndrome [14] |
12. At-risk relatives of individuals with confirmed monogenic kidney disease, especially potential kidney donors [5] |
Clinical feature | Gene examples |
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ADPKD | PKD1, PKD2 [7] |
ARPKD | PKHD1 [16] |
Alport syndrome, TBMD | COL4A3, COL4A4, COL4A5 [7] |
FSGS, nephrotic syndrome | NPHS2, ACTN4, INF2, TRPC6 [20-23] |
CAKUT | PAX2, TNXB, EYA1, HNF1B, GATA3, SALL1 [25,35] |
ADTKD | UMOD, MUC1 [28] |
Hyperoxaluria | AGXT, GRHPR [33] |
APRT deficiency | APRT [13] |
Nephrolithiasis/nephrocalcinosis | SCL3A1, ATP6V1B1, CLDN16, SCL9A3R1, VDR [33,34] |
aHUS | CFH, CFI, MCP, C3, CFB [31,32] |
ADPKD, autosomal dominant polycystic kidney disease; ARPKD, autosomal recessive polycystic kidney disease; TBMD, thin basement membrane disease; FSGS, focal segmental glomerulosclerosis; CAKUT, congenital anomalies of the kidney and urinary tract; ADTKD, autosomal dominant tubulointerstitial kidney disease; APRT, adenine phosphoribosyltransferase; aHUS, atypical hemolytic uremic syndrome.
Song Yi Kil
https://orcid.org/0000-0003-1272-1334
Woo Sik Yang
https://orcid.org/0009-0001-3218-0881
Ye Na Kim
https://orcid.org/0000-0001-9595-7355
Ho Sik Shin
https://orcid.org/0000-0002-3973-4541
Yeonsoon Jung
https://orcid.org/0000-0003-3657-7082