Liver Cirrhosis in Woman with Ciliopathy Syndrome
Ciliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis. This study aimed to describe a unique case of liver cirrhosis with possible aetiology of ciliopathy syndrome. A 44 year-old woman with chief complain o...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Interna Publishing
2022-04-01
|
| Series: | Acta Medica Indonesiana |
| Subjects: | |
| Online Access: | http://www.actamedindones.org/index.php/ijim/article/view/743 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849721671794032640 |
|---|---|
| author | Syifa Mustika Dian Hasanah |
| author_facet | Syifa Mustika Dian Hasanah |
| author_sort | Syifa Mustika |
| collection | DOAJ |
| description | Ciliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis. This study aimed to describe a unique case of liver cirrhosis with possible aetiology of ciliopathy syndrome. A 44 year-old woman with chief complain of hematemesis had diabetes mellitus, obesity, dyslipidaemia, amenorrhoea and often became unconscious. We found short stature, brachydactyly, hyperpigmented maculae in trunk and four limbs, and hepatosplenomegaly. The laboratory results showed: haemoglobin 7.4 g/dl; albumin 2.42 g/dl; urea 84.8 mg/dl; creatinine 2.4 mg/dl; prolactin 138.8 ng/ml, while HBsAg was negative and anti-HCV was non-reactive. Abdominal ultrasonography showed liver cirrhosis; endoscopy showed grade 3 oesophageal varicose; FibroScan showed 75 kPa; liver biopsy showed hydropic degeneration and cirrhosis; and head CT scan showed chronic lacunar infarction of corona radiata and mega cisterna magna occipital. We reported female with oesophageal varicose rupture, short stature, brachydactyly, obesity, diabetes mellitus, dyslipidaemia, hyperpigmented maculae, liver cirrhosis and mega cisterna magna, which was likely to suffer from ciliopathy syndrome.
|
| format | Article |
| id | doaj-art-eef6b01e3c4e401f88c4eca4ee2fb191 |
| institution | DOAJ |
| issn | 0125-9326 2338-2732 |
| language | English |
| publishDate | 2022-04-01 |
| publisher | Interna Publishing |
| record_format | Article |
| series | Acta Medica Indonesiana |
| spelling | doaj-art-eef6b01e3c4e401f88c4eca4ee2fb1912025-08-20T03:11:36ZengInterna PublishingActa Medica Indonesiana0125-93262338-27322022-04-01541494Liver Cirrhosis in Woman with Ciliopathy SyndromeSyifa Mustika0Dian Hasanah1Division of Gastroenterohepatology, Faculty of Medicine Universitas Brawijaya, Malang, IndonesiaResident of Internal Medicine, Faculty of Medicine Universitas Brawijaya, Malang, IndonesiaCiliopathy syndrome is a congenital abnormality of structure and/or function of cilia, which causes pleiotropic disorder, including liver cirrhosis. This study aimed to describe a unique case of liver cirrhosis with possible aetiology of ciliopathy syndrome. A 44 year-old woman with chief complain of hematemesis had diabetes mellitus, obesity, dyslipidaemia, amenorrhoea and often became unconscious. We found short stature, brachydactyly, hyperpigmented maculae in trunk and four limbs, and hepatosplenomegaly. The laboratory results showed: haemoglobin 7.4 g/dl; albumin 2.42 g/dl; urea 84.8 mg/dl; creatinine 2.4 mg/dl; prolactin 138.8 ng/ml, while HBsAg was negative and anti-HCV was non-reactive. Abdominal ultrasonography showed liver cirrhosis; endoscopy showed grade 3 oesophageal varicose; FibroScan showed 75 kPa; liver biopsy showed hydropic degeneration and cirrhosis; and head CT scan showed chronic lacunar infarction of corona radiata and mega cisterna magna occipital. We reported female with oesophageal varicose rupture, short stature, brachydactyly, obesity, diabetes mellitus, dyslipidaemia, hyperpigmented maculae, liver cirrhosis and mega cisterna magna, which was likely to suffer from ciliopathy syndrome. http://www.actamedindones.org/index.php/ijim/article/view/743short staturebrachydactylyinsulin resistancecirrhosisciliopathy |
| spellingShingle | Syifa Mustika Dian Hasanah Liver Cirrhosis in Woman with Ciliopathy Syndrome Acta Medica Indonesiana short stature brachydactyly insulin resistance cirrhosis ciliopathy |
| title | Liver Cirrhosis in Woman with Ciliopathy Syndrome |
| title_full | Liver Cirrhosis in Woman with Ciliopathy Syndrome |
| title_fullStr | Liver Cirrhosis in Woman with Ciliopathy Syndrome |
| title_full_unstemmed | Liver Cirrhosis in Woman with Ciliopathy Syndrome |
| title_short | Liver Cirrhosis in Woman with Ciliopathy Syndrome |
| title_sort | liver cirrhosis in woman with ciliopathy syndrome |
| topic | short stature brachydactyly insulin resistance cirrhosis ciliopathy |
| url | http://www.actamedindones.org/index.php/ijim/article/view/743 |
| work_keys_str_mv | AT syifamustika livercirrhosisinwomanwithciliopathysyndrome AT dianhasanah livercirrhosisinwomanwithciliopathysyndrome |