A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review
<h3>Background</h3><p dir="ltr">Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving variants in th...
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2024
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| _version_ | 1864513510228099072 |
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| author | Aljazi Al-Maraghi (14056975) |
| author2 | Waleed Aamer (14056969) Mubarak Ziab (15430083) Elbay Aliyev (14056972) Najwa Elbashir (18288934) Sura Hussein (14152557) Sasirekha Palaniswamy (14152563) Dhullipala Anand (9364649) Donald R. Love (14151258) Adrian Charles (14166141) Ammira A.S.Akil (18425277) Khalid A. Fakhro (3158862) |
| author2_role | author author author author author author author author author author author |
| author_facet | Aljazi Al-Maraghi (14056975) Waleed Aamer (14056969) Mubarak Ziab (15430083) Elbay Aliyev (14056972) Najwa Elbashir (18288934) Sura Hussein (14152557) Sasirekha Palaniswamy (14152563) Dhullipala Anand (9364649) Donald R. Love (14151258) Adrian Charles (14166141) Ammira A.S.Akil (18425277) Khalid A. Fakhro (3158862) |
| author_role | author |
| dc.creator.none.fl_str_mv | Aljazi Al-Maraghi (14056975) Waleed Aamer (14056969) Mubarak Ziab (15430083) Elbay Aliyev (14056972) Najwa Elbashir (18288934) Sura Hussein (14152557) Sasirekha Palaniswamy (14152563) Dhullipala Anand (9364649) Donald R. Love (14151258) Adrian Charles (14166141) Ammira A.S.Akil (18425277) Khalid A. Fakhro (3158862) |
| dc.date.none.fl_str_mv | 2024-04-22T09:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1186/s12882-024-03569-z |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/A_loss-of-function_AGTR1_variant_in_a_critically-ill_infant_with_renal_tubular_dysgenesis_case_presentation_and_literature_review/26389048 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biomedical and clinical sciences Clinical sciences Renal tubular dysgenesis AGTR1 Middle East Rare Mendelian disease Whole genome sequencing |
| dc.title.none.fl_str_mv | A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Background</h3><p dir="ltr">Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving variants in the <i>ACE, REN, AGT</i>, and <i>AGTR</i><sub><em>1</em></sub> genes, affects various enzymes or receptors within the Renin angiotensin system (RAS). This condition manifests prenatally with oligohydramninos and postnatally with persistent anuria, severe refractory hypotension, and defects in skull ossification.</p><h3>Case presentation</h3><p dir="ltr">In this report, we describe a case of a female patient who, despite receiving multi vasopressor treatment, experienced persistent hypotension, ultimately resulting in early death at five days of age. While there was a history of parental consanguinity, no reported family history of renal disease existed. Blood samples from the parents and the remaining DNA sample of the patient underwent Whole Genome Sequencing (WGS). The genetic analysis revealed a rare homozygous loss of function variant (NM_000685.5; c.415C > T; p.Arg139*) in the Angiotensin II Receptor Type 1 (<i>AGTR1</i>) gene.</p><h3>Conclusion</h3><p dir="ltr">This case highlights the consequence of loss-of-function variants in <i>AGTR1</i> gene leading to RTD, which is characterized by high mortality rate at birth or during the neonatal period. Furthermore, we provide a comprehensive review of previously reported variants in the <i>AGTR</i><sub><em>1</em></sub> gene, which is the least encountered genetic cause of RTD, along with their associated clinical features.</p><h2>Other Information</h2><p dir="ltr">Published in: BMC Nephrology<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s12882-024-03569-z" target="_blank">https://dx.doi.org/10.1186/s12882-024-03569-z</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_27c7574a6a2a9a5cd90ede254f7b106a |
| identifier_str_mv | 10.1186/s12882-024-03569-z |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/26389048 |
| publishDate | 2024 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature reviewAljazi Al-Maraghi (14056975)Waleed Aamer (14056969)Mubarak Ziab (15430083)Elbay Aliyev (14056972)Najwa Elbashir (18288934)Sura Hussein (14152557)Sasirekha Palaniswamy (14152563)Dhullipala Anand (9364649)Donald R. Love (14151258)Adrian Charles (14166141)Ammira A.S.Akil (18425277)Khalid A. Fakhro (3158862)Biomedical and clinical sciencesClinical sciencesRenal tubular dysgenesisAGTR1Middle EastRare Mendelian diseaseWhole genome sequencing<h3>Background</h3><p dir="ltr">Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving variants in the <i>ACE, REN, AGT</i>, and <i>AGTR</i><sub><em>1</em></sub> genes, affects various enzymes or receptors within the Renin angiotensin system (RAS). This condition manifests prenatally with oligohydramninos and postnatally with persistent anuria, severe refractory hypotension, and defects in skull ossification.</p><h3>Case presentation</h3><p dir="ltr">In this report, we describe a case of a female patient who, despite receiving multi vasopressor treatment, experienced persistent hypotension, ultimately resulting in early death at five days of age. While there was a history of parental consanguinity, no reported family history of renal disease existed. Blood samples from the parents and the remaining DNA sample of the patient underwent Whole Genome Sequencing (WGS). The genetic analysis revealed a rare homozygous loss of function variant (NM_000685.5; c.415C > T; p.Arg139*) in the Angiotensin II Receptor Type 1 (<i>AGTR1</i>) gene.</p><h3>Conclusion</h3><p dir="ltr">This case highlights the consequence of loss-of-function variants in <i>AGTR1</i> gene leading to RTD, which is characterized by high mortality rate at birth or during the neonatal period. Furthermore, we provide a comprehensive review of previously reported variants in the <i>AGTR</i><sub><em>1</em></sub> gene, which is the least encountered genetic cause of RTD, along with their associated clinical features.</p><h2>Other Information</h2><p dir="ltr">Published in: BMC Nephrology<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s12882-024-03569-z" target="_blank">https://dx.doi.org/10.1186/s12882-024-03569-z</a></p>2024-04-22T09:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1186/s12882-024-03569-zhttps://figshare.com/articles/journal_contribution/A_loss-of-function_AGTR1_variant_in_a_critically-ill_infant_with_renal_tubular_dysgenesis_case_presentation_and_literature_review/26389048CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/263890482024-04-22T09:00:00Z |
| spellingShingle | A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review Aljazi Al-Maraghi (14056975) Biomedical and clinical sciences Clinical sciences Renal tubular dysgenesis AGTR1 Middle East Rare Mendelian disease Whole genome sequencing |
| status_str | publishedVersion |
| title | A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review |
| title_full | A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review |
| title_fullStr | A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review |
| title_full_unstemmed | A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review |
| title_short | A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review |
| title_sort | A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review |
| topic | Biomedical and clinical sciences Clinical sciences Renal tubular dysgenesis AGTR1 Middle East Rare Mendelian disease Whole genome sequencing |