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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
  1. Pt, patient; WES, whole-exome sequencing; APRT, adenine phosphoribosyltransferase; CKD, chronic kidney disease; ESRD, end-stage renal disease