Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation

Christie P. Thomas; Sonali Gupta; Margaret E. Freese; Kanwaljit K. Chouhan; Maisie I. Dantuma; Danniele G. Holanda; Daniel A. Katz; Benjamin W. Darbro; Maria A. Mansilla; Richard J. Smith

doi:10.1111/tri.14133

Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation

Christie P. Thomas, Sonali Gupta, Margaret E. Freese, Kanwaljit K. Chouhan, Maisie I. Dantuma, Danniele G. Holanda, Daniel A. Katz, Benjamin W. Darbro, Maria A. Mansilla, Richard J. Smith

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Living kidney donors (LKDs) with a family history of renal disease are at risk of kidney disease as compared to LKDs without such history suggesting that some LKDs may be pre-symptomatic for monogenic kidney disease. LKDs with related transplant candidates whose kidney disease was considered genetic in origin were selected for genetic testing. In each case, the transplant candidate was first tested to verify the genetic diagnosis. A genetic diagnosis was confirmed in 12 of 24 transplant candidates (ADPKD-PKD1: 6, ALPORT-COL4A3: 2, ALPORT-COL4A5: 1: nephronophthisis-SDCCAG8: 1; CAKUT-HNF1B and ADTKD-MUC1: 1 each) and 2 had variants of unknown significance (VUS) in phenotype-relevant genes. Focused genetic testing was then done in 20 of 34 LKDs. 12 LKDs screened negative for the familial variant and were permitted to donate; seven screened positive and were counseled against donation. One, the heterozygous carrier of a recessive disorder was also cleared. Six of seven LKDs with a family history of ADPKD were under 30 years and in 5, by excluding ADPKD, allowed donation to safely proceed. The inclusion of genetic testing clarified the diagnosis in recipient candidates, improving safety or informed decision-making in LKDs.

Original language	English (US)
Pages (from-to)	2696-2705
Number of pages	10
Journal	Transplant International
Volume	34
Issue number	12
DOIs	https://doi.org/10.1111/tri.14133
State	Published - Dec 2021
Externally published	Yes

ASJC Scopus subject areas

Transplantation

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10.1111/tri.14133

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Thomas, C. P., Gupta, S., Freese, M. E., Chouhan, K. K., Dantuma, M. I., Holanda, D. G., Katz, D. A., Darbro, B. W., Mansilla, M. A., & Smith, R. J. (2021). Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation. Transplant International, 34(12), 2696-2705. https://doi.org/10.1111/tri.14133

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title = "Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation",

abstract = "Living kidney donors (LKDs) with a family history of renal disease are at risk of kidney disease as compared to LKDs without such history suggesting that some LKDs may be pre-symptomatic for monogenic kidney disease. LKDs with related transplant candidates whose kidney disease was considered genetic in origin were selected for genetic testing. In each case, the transplant candidate was first tested to verify the genetic diagnosis. A genetic diagnosis was confirmed in 12 of 24 transplant candidates (ADPKD-PKD1: 6, ALPORT-COL4A3: 2, ALPORT-COL4A5: 1: nephronophthisis-SDCCAG8: 1; CAKUT-HNF1B and ADTKD-MUC1: 1 each) and 2 had variants of unknown significance (VUS) in phenotype-relevant genes. Focused genetic testing was then done in 20 of 34 LKDs. 12 LKDs screened negative for the familial variant and were permitted to donate; seven screened positive and were counseled against donation. One, the heterozygous carrier of a recessive disorder was also cleared. Six of seven LKDs with a family history of ADPKD were under 30 years and in 5, by excluding ADPKD, allowed donation to safely proceed. The inclusion of genetic testing clarified the diagnosis in recipient candidates, improving safety or informed decision-making in LKDs.",

author = "Thomas, {Christie P.} and Sonali Gupta and Freese, {Margaret E.} and Chouhan, {Kanwaljit K.} and Dantuma, {Maisie I.} and Holanda, {Danniele G.} and Katz, {Daniel A.} and Darbro, {Benjamin W.} and Mansilla, {Maria A.} and Smith, {Richard J.}",

note = "Publisher Copyright: {\textcopyright} 2021 Steunstichting ESOT. This article has been contributed to by US Government employees and their work is in the public domain in the USA.",

year = "2021",

month = dec,

doi = "10.1111/tri.14133",

language = "English (US)",

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AU - Thomas, Christie P.

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AU - Freese, Margaret E.

AU - Chouhan, Kanwaljit K.

AU - Dantuma, Maisie I.

AU - Holanda, Danniele G.

AU - Katz, Daniel A.

AU - Darbro, Benjamin W.

AU - Mansilla, Maria A.

AU - Smith, Richard J.

PY - 2021/12

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N2 - Living kidney donors (LKDs) with a family history of renal disease are at risk of kidney disease as compared to LKDs without such history suggesting that some LKDs may be pre-symptomatic for monogenic kidney disease. LKDs with related transplant candidates whose kidney disease was considered genetic in origin were selected for genetic testing. In each case, the transplant candidate was first tested to verify the genetic diagnosis. A genetic diagnosis was confirmed in 12 of 24 transplant candidates (ADPKD-PKD1: 6, ALPORT-COL4A3: 2, ALPORT-COL4A5: 1: nephronophthisis-SDCCAG8: 1; CAKUT-HNF1B and ADTKD-MUC1: 1 each) and 2 had variants of unknown significance (VUS) in phenotype-relevant genes. Focused genetic testing was then done in 20 of 34 LKDs. 12 LKDs screened negative for the familial variant and were permitted to donate; seven screened positive and were counseled against donation. One, the heterozygous carrier of a recessive disorder was also cleared. Six of seven LKDs with a family history of ADPKD were under 30 years and in 5, by excluding ADPKD, allowed donation to safely proceed. The inclusion of genetic testing clarified the diagnosis in recipient candidates, improving safety or informed decision-making in LKDs.

AB - Living kidney donors (LKDs) with a family history of renal disease are at risk of kidney disease as compared to LKDs without such history suggesting that some LKDs may be pre-symptomatic for monogenic kidney disease. LKDs with related transplant candidates whose kidney disease was considered genetic in origin were selected for genetic testing. In each case, the transplant candidate was first tested to verify the genetic diagnosis. A genetic diagnosis was confirmed in 12 of 24 transplant candidates (ADPKD-PKD1: 6, ALPORT-COL4A3: 2, ALPORT-COL4A5: 1: nephronophthisis-SDCCAG8: 1; CAKUT-HNF1B and ADTKD-MUC1: 1 each) and 2 had variants of unknown significance (VUS) in phenotype-relevant genes. Focused genetic testing was then done in 20 of 34 LKDs. 12 LKDs screened negative for the familial variant and were permitted to donate; seven screened positive and were counseled against donation. One, the heterozygous carrier of a recessive disorder was also cleared. Six of seven LKDs with a family history of ADPKD were under 30 years and in 5, by excluding ADPKD, allowed donation to safely proceed. The inclusion of genetic testing clarified the diagnosis in recipient candidates, improving safety or informed decision-making in LKDs.

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Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation

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