Artrogripose renal colestática diagnosticada a partir de colestase neonatal: relato de caso
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare autosomal recessive syndrome, with multisystemic manifestations and mainly characterized by arthrogriposis, renal dysfunction and cholestasis. The prognosis is poor and most patients die within the first year of life. This is...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Pediatria
2022-09-01
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| Series: | Residência Pediátrica |
| Subjects: | |
| Online Access: | https://residenciapediatrica.com.br/detalhes/1164/artrogripose%20renal%20colestatica%20diagnosticada%20a%20partir%20de%20colestase%20neonatal-%20relato%20de%20caso |
| _version_ | 1797449179238236160 |
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| author | Bruna Caseri Marino Natascha Silva Sandy Gabriel Hessel Maria Angela Bellomo Brandão |
| author_facet | Bruna Caseri Marino Natascha Silva Sandy Gabriel Hessel Maria Angela Bellomo Brandão |
| author_sort | Bruna Caseri Marino |
| collection | DOAJ |
| description | Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare autosomal recessive syndrome, with multisystemic manifestations and mainly characterized by arthrogriposis, renal dysfunction and cholestasis. The prognosis is poor and most patients die within the first year of life. This is a case report of a female infant, 37 days old, referred to a tertiary hospital due to neonatal cholestasis. Upon evaluation, she also presented with Fanconi syndrome, arthrogryposis, malnutrition, ichthyosis and agranular platelets, thus receiving the clinical diagnosis of ARC syndrome. The liver biopsy showed signs of neonatal hepatitis. Her admission was complicated by dehydration, worsening of metabolic acidosis and acute respiratory failure. The infant was discharged at the age of 3 months, in palliative care, and later died. As it is a very rare disease, knowledge of its characteristics is crucial for appropriated diagnostic evaluation and differential diagnosis with other causes of cholestasis, as well as adequate management. |
| first_indexed | 2024-03-09T14:21:07Z |
| format | Article |
| id | doaj.art-ee112c142c5b4f2e8031c2f6eba2c6d1 |
| institution | Directory Open Access Journal |
| issn | 2236-6814 |
| language | English |
| last_indexed | 2024-03-09T14:21:07Z |
| publishDate | 2022-09-01 |
| publisher | Sociedade Brasileira de Pediatria |
| record_format | Article |
| series | Residência Pediátrica |
| spelling | doaj.art-ee112c142c5b4f2e8031c2f6eba2c6d12023-11-28T13:09:38ZengSociedade Brasileira de PediatriaResidência Pediátrica2236-68142022-09-0112310.25060/residpediatr-2022.v12n3-352Artrogripose renal colestática diagnosticada a partir de colestase neonatal: relato de casoBruna Caseri Marino0Natascha Silva Sandy1Gabriel Hessel2Maria Angela Bellomo Brandão3Hospital de Clínicas - UNICAMP, Gastroenterologia Pediátrica - Campinas - São Paulo - BrasilHospital de Clínicas - UNICAMP, Gastroenterologia Pediátrica - Campinas - São Paulo - Brasil; Hospital for Sick Children, Pediatric Gastroenterology - Toronto - Ontario - CanadáHospital de Clínicas - UNICAMP, Gastroenterologia Pediátrica - Campinas - São Paulo - BrasilHospital de Clínicas - UNICAMP, Gastroenterologia Pediátrica - Campinas - São Paulo - BrasilArthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare autosomal recessive syndrome, with multisystemic manifestations and mainly characterized by arthrogriposis, renal dysfunction and cholestasis. The prognosis is poor and most patients die within the first year of life. This is a case report of a female infant, 37 days old, referred to a tertiary hospital due to neonatal cholestasis. Upon evaluation, she also presented with Fanconi syndrome, arthrogryposis, malnutrition, ichthyosis and agranular platelets, thus receiving the clinical diagnosis of ARC syndrome. The liver biopsy showed signs of neonatal hepatitis. Her admission was complicated by dehydration, worsening of metabolic acidosis and acute respiratory failure. The infant was discharged at the age of 3 months, in palliative care, and later died. As it is a very rare disease, knowledge of its characteristics is crucial for appropriated diagnostic evaluation and differential diagnosis with other causes of cholestasis, as well as adequate management.https://residenciapediatrica.com.br/detalhes/1164/artrogripose%20renal%20colestatica%20diagnosticada%20a%20partir%20de%20colestase%20neonatal-%20relato%20de%20casoarthrogryposischolestasisfanconi syndrome |
| spellingShingle | Bruna Caseri Marino Natascha Silva Sandy Gabriel Hessel Maria Angela Bellomo Brandão Artrogripose renal colestática diagnosticada a partir de colestase neonatal: relato de caso Residência Pediátrica arthrogryposis cholestasis fanconi syndrome |
| title | Artrogripose renal colestática diagnosticada a partir de colestase neonatal: relato de caso |
| title_full | Artrogripose renal colestática diagnosticada a partir de colestase neonatal: relato de caso |
| title_fullStr | Artrogripose renal colestática diagnosticada a partir de colestase neonatal: relato de caso |
| title_full_unstemmed | Artrogripose renal colestática diagnosticada a partir de colestase neonatal: relato de caso |
| title_short | Artrogripose renal colestática diagnosticada a partir de colestase neonatal: relato de caso |
| title_sort | artrogripose renal colestatica diagnosticada a partir de colestase neonatal relato de caso |
| topic | arthrogryposis cholestasis fanconi syndrome |
| url | https://residenciapediatrica.com.br/detalhes/1164/artrogripose%20renal%20colestatica%20diagnosticada%20a%20partir%20de%20colestase%20neonatal-%20relato%20de%20caso |
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