New‐onset diabetes after renal transplantation in a patient with a novel HNF1B mutation
CAKUT are the most frequent causes of ESRD in children. Mutations in the gene encoding HNF1B, a transcription factor involved in organ development and maintenance, cause a multisystem disorder that includes CAKUT, diabetes, and liver dysfunction. Here, we describe the case of a patient with renal hy...
Gespeichert in:
Veröffentlicht in: | Pediatric transplantation 2016-05, Vol.20 (3), p.467-471 |
---|---|
Hauptverfasser: | , , , , , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
Schlagworte: | |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
container_end_page | 471 |
---|---|
container_issue | 3 |
container_start_page | 467 |
container_title | Pediatric transplantation |
container_volume | 20 |
creator | Kanda, Shoichiro Morisada, Naoya Kaneko, Naoto Yabuuchi, Tomoo Nawashiro, Yuri Tada, Norimasa Nishiyama, Kei Miyai, Takayuki Sugawara, Noriko Ishizuka, Kiyonobu Chikamoto, Hiroko Akioka, Yuko Iijima, Kazumoto Hattori, Motoshi |
description | CAKUT are the most frequent causes of ESRD in children. Mutations in the gene encoding HNF1B, a transcription factor involved in organ development and maintenance, cause a multisystem disorder that includes CAKUT, diabetes, and liver dysfunction. Here, we describe the case of a patient with renal hypodysplasia who developed NODAT presenting with liver dysfunction. The NODAT was initially thought to be steroid and FK related. However, based on the patient's clinical features, including renal hypodysplasia and recurrent elevations of transaminase, screening for an HNF1B mutation was performed. Direct sequencing identified a novel splicing mutation of HNF1B, designated c.344 + 2T>C. Because CAKUT is the leading cause of ESRD in children and HNF1B mutations can cause both renal hypodysplasia and diabetes, HNF1B mutations may account for a portion of the cases of NODAT in pediatric patients who have undergone kidney transplantation. NODAT is a serious and major complication of solid organ transplantation and is associated with reduced graft survival. Therefore, for the appropriate management of kidney transplantation, screening for HNF1B mutations should be considered in pediatric patients with transplants caused by CAKUT who develop NODAT and show extra‐renal symptoms. |
doi_str_mv | 10.1111/petr.12690 |
format | Article |
fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_proquest_miscellaneous_1809050521</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1809050521</sourcerecordid><originalsourceid>FETCH-LOGICAL-p2530-3360bc0ba812b5bfc345bb99deeb69d7ccfcac5d0998ed4cdadd7f50651f81a13</originalsourceid><addsrcrecordid>eNo9kEtOwzAQhi0EoqWw4QDISzYpdhwn8RKqliJVBaGyYGX5MRFBeRE7VN1xBM7ISUgfMJv5R_NpNPoQuqRkTPu6acC3YxrGghyhIWVCBIxE8fEuJwGjUThAZ869E0LjKI1O0SCMUyGSJByi1yWsf76-68qBxzZXGjw4rDIPLW6hUgX2rapcU6jKK5_XFc4rrHDTZ6g8Xuf-rR-r-hMKPF_O6B0uuz14jk4yVTi4OPQReplNV5N5sHi8f5jcLoIm5IwEjMVEG6JVSkPNdWZYxLUWwgLoWNjEmMwowy0RIgUbGausTTJOYk6zlCrKRuh6f7dp648OnJdl7gwU_cdQd07SlAjCCQ-36NUB7XQJVjZtXqp2I_909ADdA-u8gM3_nhK5FS23ouVOtHyarp53if0CUYRy7A</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1809050521</pqid></control><display><type>article</type><title>New‐onset diabetes after renal transplantation in a patient with a novel HNF1B mutation</title><source>MEDLINE</source><source>Access via Wiley Online Library</source><creator>Kanda, Shoichiro ; Morisada, Naoya ; Kaneko, Naoto ; Yabuuchi, Tomoo ; Nawashiro, Yuri ; Tada, Norimasa ; Nishiyama, Kei ; Miyai, Takayuki ; Sugawara, Noriko ; Ishizuka, Kiyonobu ; Chikamoto, Hiroko ; Akioka, Yuko ; Iijima, Kazumoto ; Hattori, Motoshi</creator><creatorcontrib>Kanda, Shoichiro ; Morisada, Naoya ; Kaneko, Naoto ; Yabuuchi, Tomoo ; Nawashiro, Yuri ; Tada, Norimasa ; Nishiyama, Kei ; Miyai, Takayuki ; Sugawara, Noriko ; Ishizuka, Kiyonobu ; Chikamoto, Hiroko ; Akioka, Yuko ; Iijima, Kazumoto ; Hattori, Motoshi</creatorcontrib><description>CAKUT are the most frequent causes of ESRD in children. Mutations in the gene encoding HNF1B, a transcription factor involved in organ development and maintenance, cause a multisystem disorder that includes CAKUT, diabetes, and liver dysfunction. Here, we describe the case of a patient with renal hypodysplasia who developed NODAT presenting with liver dysfunction. The NODAT was initially thought to be steroid and FK related. However, based on the patient's clinical features, including renal hypodysplasia and recurrent elevations of transaminase, screening for an HNF1B mutation was performed. Direct sequencing identified a novel splicing mutation of HNF1B, designated c.344 + 2T>C. Because CAKUT is the leading cause of ESRD in children and HNF1B mutations can cause both renal hypodysplasia and diabetes, HNF1B mutations may account for a portion of the cases of NODAT in pediatric patients who have undergone kidney transplantation. NODAT is a serious and major complication of solid organ transplantation and is associated with reduced graft survival. Therefore, for the appropriate management of kidney transplantation, screening for HNF1B mutations should be considered in pediatric patients with transplants caused by CAKUT who develop NODAT and show extra‐renal symptoms.</description><identifier>ISSN: 1397-3142</identifier><identifier>EISSN: 1399-3046</identifier><identifier>DOI: 10.1111/petr.12690</identifier><identifier>PMID: 26899772</identifier><language>eng</language><publisher>Denmark</publisher><subject>Adolescent ; Adult ; Alternative Splicing ; Child ; Child, Preschool ; complications ; Diabetes Mellitus - genetics ; Female ; Graft Survival ; Hepatocyte Nuclear Factor 1-beta - genetics ; HNF1B ; Humans ; Kidney - physiopathology ; Kidney Diseases - physiopathology ; Kidney Transplantation ; Male ; Mutation ; NODAT ; pediatric kidney transplantation ; Pediatrics - methods ; Renal Insufficiency - complications ; Renal Insufficiency - genetics ; Renal Insufficiency - surgery ; Sequence Analysis, DNA ; Steroids - therapeutic use ; Transaminases - blood ; Urogenital Abnormalities - complications ; Urogenital Abnormalities - genetics ; Vesico-Ureteral Reflux - complications ; Vesico-Ureteral Reflux - genetics</subject><ispartof>Pediatric transplantation, 2016-05, Vol.20 (3), p.467-471</ispartof><rights>2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fpetr.12690$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fpetr.12690$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26899772$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kanda, Shoichiro</creatorcontrib><creatorcontrib>Morisada, Naoya</creatorcontrib><creatorcontrib>Kaneko, Naoto</creatorcontrib><creatorcontrib>Yabuuchi, Tomoo</creatorcontrib><creatorcontrib>Nawashiro, Yuri</creatorcontrib><creatorcontrib>Tada, Norimasa</creatorcontrib><creatorcontrib>Nishiyama, Kei</creatorcontrib><creatorcontrib>Miyai, Takayuki</creatorcontrib><creatorcontrib>Sugawara, Noriko</creatorcontrib><creatorcontrib>Ishizuka, Kiyonobu</creatorcontrib><creatorcontrib>Chikamoto, Hiroko</creatorcontrib><creatorcontrib>Akioka, Yuko</creatorcontrib><creatorcontrib>Iijima, Kazumoto</creatorcontrib><creatorcontrib>Hattori, Motoshi</creatorcontrib><title>New‐onset diabetes after renal transplantation in a patient with a novel HNF1B mutation</title><title>Pediatric transplantation</title><addtitle>Pediatr Transplant</addtitle><description>CAKUT are the most frequent causes of ESRD in children. Mutations in the gene encoding HNF1B, a transcription factor involved in organ development and maintenance, cause a multisystem disorder that includes CAKUT, diabetes, and liver dysfunction. Here, we describe the case of a patient with renal hypodysplasia who developed NODAT presenting with liver dysfunction. The NODAT was initially thought to be steroid and FK related. However, based on the patient's clinical features, including renal hypodysplasia and recurrent elevations of transaminase, screening for an HNF1B mutation was performed. Direct sequencing identified a novel splicing mutation of HNF1B, designated c.344 + 2T>C. Because CAKUT is the leading cause of ESRD in children and HNF1B mutations can cause both renal hypodysplasia and diabetes, HNF1B mutations may account for a portion of the cases of NODAT in pediatric patients who have undergone kidney transplantation. NODAT is a serious and major complication of solid organ transplantation and is associated with reduced graft survival. Therefore, for the appropriate management of kidney transplantation, screening for HNF1B mutations should be considered in pediatric patients with transplants caused by CAKUT who develop NODAT and show extra‐renal symptoms.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Alternative Splicing</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>complications</subject><subject>Diabetes Mellitus - genetics</subject><subject>Female</subject><subject>Graft Survival</subject><subject>Hepatocyte Nuclear Factor 1-beta - genetics</subject><subject>HNF1B</subject><subject>Humans</subject><subject>Kidney - physiopathology</subject><subject>Kidney Diseases - physiopathology</subject><subject>Kidney Transplantation</subject><subject>Male</subject><subject>Mutation</subject><subject>NODAT</subject><subject>pediatric kidney transplantation</subject><subject>Pediatrics - methods</subject><subject>Renal Insufficiency - complications</subject><subject>Renal Insufficiency - genetics</subject><subject>Renal Insufficiency - surgery</subject><subject>Sequence Analysis, DNA</subject><subject>Steroids - therapeutic use</subject><subject>Transaminases - blood</subject><subject>Urogenital Abnormalities - complications</subject><subject>Urogenital Abnormalities - genetics</subject><subject>Vesico-Ureteral Reflux - complications</subject><subject>Vesico-Ureteral Reflux - genetics</subject><issn>1397-3142</issn><issn>1399-3046</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kEtOwzAQhi0EoqWw4QDISzYpdhwn8RKqliJVBaGyYGX5MRFBeRE7VN1xBM7ISUgfMJv5R_NpNPoQuqRkTPu6acC3YxrGghyhIWVCBIxE8fEuJwGjUThAZ869E0LjKI1O0SCMUyGSJByi1yWsf76-68qBxzZXGjw4rDIPLW6hUgX2rapcU6jKK5_XFc4rrHDTZ6g8Xuf-rR-r-hMKPF_O6B0uuz14jk4yVTi4OPQReplNV5N5sHi8f5jcLoIm5IwEjMVEG6JVSkPNdWZYxLUWwgLoWNjEmMwowy0RIgUbGausTTJOYk6zlCrKRuh6f7dp648OnJdl7gwU_cdQd07SlAjCCQ-36NUB7XQJVjZtXqp2I_909ADdA-u8gM3_nhK5FS23ouVOtHyarp53if0CUYRy7A</recordid><startdate>201605</startdate><enddate>201605</enddate><creator>Kanda, Shoichiro</creator><creator>Morisada, Naoya</creator><creator>Kaneko, Naoto</creator><creator>Yabuuchi, Tomoo</creator><creator>Nawashiro, Yuri</creator><creator>Tada, Norimasa</creator><creator>Nishiyama, Kei</creator><creator>Miyai, Takayuki</creator><creator>Sugawara, Noriko</creator><creator>Ishizuka, Kiyonobu</creator><creator>Chikamoto, Hiroko</creator><creator>Akioka, Yuko</creator><creator>Iijima, Kazumoto</creator><creator>Hattori, Motoshi</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201605</creationdate><title>New‐onset diabetes after renal transplantation in a patient with a novel HNF1B mutation</title><author>Kanda, Shoichiro ; Morisada, Naoya ; Kaneko, Naoto ; Yabuuchi, Tomoo ; Nawashiro, Yuri ; Tada, Norimasa ; Nishiyama, Kei ; Miyai, Takayuki ; Sugawara, Noriko ; Ishizuka, Kiyonobu ; Chikamoto, Hiroko ; Akioka, Yuko ; Iijima, Kazumoto ; Hattori, Motoshi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p2530-3360bc0ba812b5bfc345bb99deeb69d7ccfcac5d0998ed4cdadd7f50651f81a13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Alternative Splicing</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>complications</topic><topic>Diabetes Mellitus - genetics</topic><topic>Female</topic><topic>Graft Survival</topic><topic>Hepatocyte Nuclear Factor 1-beta - genetics</topic><topic>HNF1B</topic><topic>Humans</topic><topic>Kidney - physiopathology</topic><topic>Kidney Diseases - physiopathology</topic><topic>Kidney Transplantation</topic><topic>Male</topic><topic>Mutation</topic><topic>NODAT</topic><topic>pediatric kidney transplantation</topic><topic>Pediatrics - methods</topic><topic>Renal Insufficiency - complications</topic><topic>Renal Insufficiency - genetics</topic><topic>Renal Insufficiency - surgery</topic><topic>Sequence Analysis, DNA</topic><topic>Steroids - therapeutic use</topic><topic>Transaminases - blood</topic><topic>Urogenital Abnormalities - complications</topic><topic>Urogenital Abnormalities - genetics</topic><topic>Vesico-Ureteral Reflux - complications</topic><topic>Vesico-Ureteral Reflux - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kanda, Shoichiro</creatorcontrib><creatorcontrib>Morisada, Naoya</creatorcontrib><creatorcontrib>Kaneko, Naoto</creatorcontrib><creatorcontrib>Yabuuchi, Tomoo</creatorcontrib><creatorcontrib>Nawashiro, Yuri</creatorcontrib><creatorcontrib>Tada, Norimasa</creatorcontrib><creatorcontrib>Nishiyama, Kei</creatorcontrib><creatorcontrib>Miyai, Takayuki</creatorcontrib><creatorcontrib>Sugawara, Noriko</creatorcontrib><creatorcontrib>Ishizuka, Kiyonobu</creatorcontrib><creatorcontrib>Chikamoto, Hiroko</creatorcontrib><creatorcontrib>Akioka, Yuko</creatorcontrib><creatorcontrib>Iijima, Kazumoto</creatorcontrib><creatorcontrib>Hattori, Motoshi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric transplantation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kanda, Shoichiro</au><au>Morisada, Naoya</au><au>Kaneko, Naoto</au><au>Yabuuchi, Tomoo</au><au>Nawashiro, Yuri</au><au>Tada, Norimasa</au><au>Nishiyama, Kei</au><au>Miyai, Takayuki</au><au>Sugawara, Noriko</au><au>Ishizuka, Kiyonobu</au><au>Chikamoto, Hiroko</au><au>Akioka, Yuko</au><au>Iijima, Kazumoto</au><au>Hattori, Motoshi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>New‐onset diabetes after renal transplantation in a patient with a novel HNF1B mutation</atitle><jtitle>Pediatric transplantation</jtitle><addtitle>Pediatr Transplant</addtitle><date>2016-05</date><risdate>2016</risdate><volume>20</volume><issue>3</issue><spage>467</spage><epage>471</epage><pages>467-471</pages><issn>1397-3142</issn><eissn>1399-3046</eissn><abstract>CAKUT are the most frequent causes of ESRD in children. Mutations in the gene encoding HNF1B, a transcription factor involved in organ development and maintenance, cause a multisystem disorder that includes CAKUT, diabetes, and liver dysfunction. Here, we describe the case of a patient with renal hypodysplasia who developed NODAT presenting with liver dysfunction. The NODAT was initially thought to be steroid and FK related. However, based on the patient's clinical features, including renal hypodysplasia and recurrent elevations of transaminase, screening for an HNF1B mutation was performed. Direct sequencing identified a novel splicing mutation of HNF1B, designated c.344 + 2T>C. Because CAKUT is the leading cause of ESRD in children and HNF1B mutations can cause both renal hypodysplasia and diabetes, HNF1B mutations may account for a portion of the cases of NODAT in pediatric patients who have undergone kidney transplantation. NODAT is a serious and major complication of solid organ transplantation and is associated with reduced graft survival. Therefore, for the appropriate management of kidney transplantation, screening for HNF1B mutations should be considered in pediatric patients with transplants caused by CAKUT who develop NODAT and show extra‐renal symptoms.</abstract><cop>Denmark</cop><pmid>26899772</pmid><doi>10.1111/petr.12690</doi><tpages>5</tpages></addata></record> |
fulltext | fulltext |
identifier | ISSN: 1397-3142 |
ispartof | Pediatric transplantation, 2016-05, Vol.20 (3), p.467-471 |
issn | 1397-3142 1399-3046 |
language | eng |
recordid | cdi_proquest_miscellaneous_1809050521 |
source | MEDLINE; Access via Wiley Online Library |
subjects | Adolescent Adult Alternative Splicing Child Child, Preschool complications Diabetes Mellitus - genetics Female Graft Survival Hepatocyte Nuclear Factor 1-beta - genetics HNF1B Humans Kidney - physiopathology Kidney Diseases - physiopathology Kidney Transplantation Male Mutation NODAT pediatric kidney transplantation Pediatrics - methods Renal Insufficiency - complications Renal Insufficiency - genetics Renal Insufficiency - surgery Sequence Analysis, DNA Steroids - therapeutic use Transaminases - blood Urogenital Abnormalities - complications Urogenital Abnormalities - genetics Vesico-Ureteral Reflux - complications Vesico-Ureteral Reflux - genetics |
title | New‐onset diabetes after renal transplantation in a patient with a novel HNF1B mutation |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-25T22%3A41%3A31IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=New%E2%80%90onset%20diabetes%20after%20renal%20transplantation%20in%20a%20patient%20with%20a%20novel%20HNF1B%20mutation&rft.jtitle=Pediatric%20transplantation&rft.au=Kanda,%20Shoichiro&rft.date=2016-05&rft.volume=20&rft.issue=3&rft.spage=467&rft.epage=471&rft.pages=467-471&rft.issn=1397-3142&rft.eissn=1399-3046&rft_id=info:doi/10.1111/petr.12690&rft_dat=%3Cproquest_pubme%3E1809050521%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1809050521&rft_id=info:pmid/26899772&rfr_iscdi=true |