The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis
Early diagnosis of Niemann-Pick disease type C (NP-C) in neonatal cholestasis is still challenging because splenomegaly is non-specific and oxysterol profiling studies also have a relatively low specificity. This study explores a method for identifying infants with a high clinical suspicion of NP-C...
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| Format: | Article |
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Frontiers Media S.A.
2022-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.867413/full |
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| author | Neng-Li Wang Lian Chen Yi Lu Xin-Bao Xie Jing Lin Kuerbanjiang Abuduxikuer Jian-She Wang |
| author_facet | Neng-Li Wang Lian Chen Yi Lu Xin-Bao Xie Jing Lin Kuerbanjiang Abuduxikuer Jian-She Wang |
| author_sort | Neng-Li Wang |
| collection | DOAJ |
| description | Early diagnosis of Niemann-Pick disease type C (NP-C) in neonatal cholestasis is still challenging because splenomegaly is non-specific and oxysterol profiling studies also have a relatively low specificity. This study explores a method for identifying infants with a high clinical suspicion of NP-C in neonatal cholestasis. We reviewed the clinical findings of 9 neonatal cholestatic infants with NP-C genetically diagnosed between January 2015 and December 2020. Seven underwent liver biopsy at ages ranging from 35 to 112 d. Foam cells were only detected in 2 (28.6%, 2/7) liver tissues obtained beyond 3 months of age. However, vacuolated Kupffer cells were detected in all 7 liver tissues. Their significance was explored by using 168 neonatal cholestatic infants, who underwent genetic tests and liver biopsy between January 2018 and December 2020. Of them, 26 detected vacuolated Kupffer cells. Six (23.1%, 6/26) were diagnosed as NP-C, comparing to none of the 142 neonatal cholestatic infants without vacuolated Kupffer cells (χ2 = 33.983, p < 0.001). The ratio of positive diagnosis of NP-C was 31.6% (6/19) in neonatal cholestatic infants with both vacuolated Kupffer cells and splenomegaly. Therefore, we conclude that the presence of vacuolated Kupffer cells can raise a high clinical suspicion of NP-C in neonatal cholestatic infants, especially in those with splenomegaly. |
| first_indexed | 2024-12-13T15:10:31Z |
| format | Article |
| id | doaj.art-d623a0ac72a946bc90bef96cca55987b |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-13T15:10:31Z |
| publishDate | 2022-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-d623a0ac72a946bc90bef96cca55987b2022-12-21T23:40:54ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-03-011310.3389/fgene.2022.867413867413The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal CholestasisNeng-Li Wang0Lian Chen1Yi Lu2Xin-Bao Xie3Jing Lin4Kuerbanjiang Abuduxikuer5Jian-She Wang6Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai, ChinaDepartment of Pathology, Children’s Hospital of Fudan University, Shanghai, ChinaCenter for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai, ChinaCenter for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai, ChinaDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, United StatesCenter for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai, ChinaCenter for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai, ChinaEarly diagnosis of Niemann-Pick disease type C (NP-C) in neonatal cholestasis is still challenging because splenomegaly is non-specific and oxysterol profiling studies also have a relatively low specificity. This study explores a method for identifying infants with a high clinical suspicion of NP-C in neonatal cholestasis. We reviewed the clinical findings of 9 neonatal cholestatic infants with NP-C genetically diagnosed between January 2015 and December 2020. Seven underwent liver biopsy at ages ranging from 35 to 112 d. Foam cells were only detected in 2 (28.6%, 2/7) liver tissues obtained beyond 3 months of age. However, vacuolated Kupffer cells were detected in all 7 liver tissues. Their significance was explored by using 168 neonatal cholestatic infants, who underwent genetic tests and liver biopsy between January 2018 and December 2020. Of them, 26 detected vacuolated Kupffer cells. Six (23.1%, 6/26) were diagnosed as NP-C, comparing to none of the 142 neonatal cholestatic infants without vacuolated Kupffer cells (χ2 = 33.983, p < 0.001). The ratio of positive diagnosis of NP-C was 31.6% (6/19) in neonatal cholestatic infants with both vacuolated Kupffer cells and splenomegaly. Therefore, we conclude that the presence of vacuolated Kupffer cells can raise a high clinical suspicion of NP-C in neonatal cholestatic infants, especially in those with splenomegaly.https://www.frontiersin.org/articles/10.3389/fgene.2022.867413/fullneonatal cholestasisinfantNiemann-Pick disease type CKupffer celldiagnosis |
| spellingShingle | Neng-Li Wang Lian Chen Yi Lu Xin-Bao Xie Jing Lin Kuerbanjiang Abuduxikuer Jian-She Wang The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis Frontiers in Genetics neonatal cholestasis infant Niemann-Pick disease type C Kupffer cell diagnosis |
| title | The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis |
| title_full | The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis |
| title_fullStr | The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis |
| title_full_unstemmed | The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis |
| title_short | The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis |
| title_sort | presence of vacuolated kupffer cells raises a clinical suspicion of niemann pick disease type c in neonatal cholestasis |
| topic | neonatal cholestasis infant Niemann-Pick disease type C Kupffer cell diagnosis |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.867413/full |
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