Table 2 Clinical impact of genetic diagnosis using WES
From: Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management
Pt No | Purpose of WES | Diagnosis | Clinical impact |
|---|---|---|---|
1 | Evaluation for familial disease for making a decision regarding kidney donation from a family member | Autosomal dominant tubulointerstitial disease-Uromodulin-associated kidney disease | Evaluation of other family members, plan for kidney donation from unaffected son, justification of the use of uric acid lowering agent |
2 | Anticipation for recurrent disease after kidney transplantation | APRT deficiency | Genetic counseling, start medication retarding renal damage due to underlying disease |
3 | Evaluation for possible underlying etiology for syndromic disease | Ayme-Gripp syndrome | Genetic counseling for reproductive plan, surveillance for other organ involvement including cataract, brain imaging, skeletal abnormalities, endocrine function, gastrointestinal function |
4 | Evaluation for possible underlying etiology for familial syndromic disease | Short-rib thoracic dysplasia 9 with or without polydactyly | Genetic counseling, surveillance for other organ involvement including hepatic/retinal involvement |
5 | Evaluation for underlying etiology for incidental childhood CKD progression | Papillo-renal syndrome | Genetic counseling for reproductive plan, evaluation of other family members, surveillance for other organ involvement including vision and hearing |
6 | Evaluation for underlying etiology for incidental childhood CKD progression | Papillo-renal syndrome | Genetic counseling for reproductive plan, evaluation of other family members, surveillance for organ involvement including vision and hearing |
7 | Evaluation for underlying etiology for neonatal nephrocalcinosis | Hypercalcemia, infantile, 1 | Genetic counseling for reproductive plan, establishment of preventive principles for aggravation of the signs and symptoms |
8 | Evaluation for underlying etiology for neonatal persistent severe hypomagnesemia, hypocalcemia | Hypomagnesemia 1, intestinal | Genetic counseling for reproductive plan, establishment of long-term management plan based on pathophysiology |
9 | Evaluation for congenital renal disease leading to ESRD | Papillo-renal syndrome | Genetic counseling for reproductive plan, evaluation of other family members, surveillance for other organ involvement including vision and hearing |