A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement
Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with...
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| Format: | Article |
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Frontiers Media S.A.
2019-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2019.00127/full |
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| author | Francesca Taroni Valentina Capone Alfredo Berrettini Erika Adalgisa De Marco Gian Antonio Manzoni Giovanni Montini Giovanni Montini |
| author_facet | Francesca Taroni Valentina Capone Alfredo Berrettini Erika Adalgisa De Marco Gian Antonio Manzoni Giovanni Montini Giovanni Montini |
| author_sort | Francesca Taroni |
| collection | DOAJ |
| description | Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome. |
| first_indexed | 2024-12-20T13:18:37Z |
| format | Article |
| id | doaj.art-31cea92a2ca6445d83548bea5d4b83a0 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-20T13:18:37Z |
| publishDate | 2019-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-31cea92a2ca6445d83548bea5d4b83a02022-12-21T19:39:27ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602019-04-01710.3389/fped.2019.00127432526A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal InvolvementFrancesca Taroni0Valentina Capone1Alfredo Berrettini2Erika Adalgisa De Marco3Gian Antonio Manzoni4Giovanni Montini5Giovanni Montini6Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda—Ospedale Maggiore Policlinico, Milan, ItalyPediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda—Ospedale Maggiore Policlinico, Milan, ItalyPediatric Urology Unit, Fondazione IRCCS Ca' Granda—Ospedale Maggiore Policlinico, Milan, ItalyPediatric Urology Unit, Fondazione IRCCS Ca' Granda—Ospedale Maggiore Policlinico, Milan, ItalyPediatric Urology Unit, Fondazione IRCCS Ca' Granda—Ospedale Maggiore Policlinico, Milan, ItalyPediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda—Ospedale Maggiore Policlinico, Milan, ItalyGiuliana and Bernardo Caprotti Chair of Pediatrics, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyHypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with HCS associated with other clinical features as congenital anomalies of kidney and urinary tract (primary obstructed megaureter, POM), cryptorchidism and cardiac involvement (patent foramen ovale with atrial septum aneurysm). To the best of our knowledge, cryporchidism and POM have never been reported before in patients with HCS. Moreover, a cardiac involvement has been described only in another case of HCS that, interestingly, presents the same genetic abnormalities as our patient. The diagnosis of HCS can be difficult because neurological signs are aspecific and kidney stones are commonly absent during the first months of life. A better understanding of the complete clinical scenario associated with HCS can help clinicians suspect, diagnose and treat HCS earlier with a positive influence on both neurological and renal outcome.https://www.frontiersin.org/article/10.3389/fped.2019.00127/fullhypotonia cystinuria syndromePREPLSLC3A1CAKUTpatent foramen ovalecryptorchidism |
| spellingShingle | Francesca Taroni Valentina Capone Alfredo Berrettini Erika Adalgisa De Marco Gian Antonio Manzoni Giovanni Montini Giovanni Montini A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement Frontiers in Pediatrics hypotonia cystinuria syndrome PREPL SLC3A1 CAKUT patent foramen ovale cryptorchidism |
| title | A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement |
| title_full | A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement |
| title_fullStr | A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement |
| title_full_unstemmed | A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement |
| title_short | A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement |
| title_sort | case of hypotonia cystinuria syndrome with genito urinary malformations and extrarenal involvement |
| topic | hypotonia cystinuria syndrome PREPL SLC3A1 CAKUT patent foramen ovale cryptorchidism |
| url | https://www.frontiersin.org/article/10.3389/fped.2019.00127/full |
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