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Liver Cirrhosis in Woman with Ciliopathy Syndrome

ACTA MEDICA INDONESIANA · Vol. 54 No. 1 (2022)

ISSN
2338-2732, 0125-9326
Terbit
2022-04-08
Penerbit
The Indonesian Society of Internal Medicine
Bahasa
eng

Abstrak

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.

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Supriono SuprionoSebelas Maret University2
Mochamad FachrurezaAfiliasi tidak diketahui2
Bogi Pratomo WibowoAfiliasi tidak diketahui2
Irene SaveriaAfiliasi tidak diketahui1
Hengki WijayaAfiliasi tidak diketahui1
Bogi PratomoAfiliasi tidak diketahui1
Amalia Nurul HatinahAfiliasi tidak diketahui1
Rini R BachtiarAfiliasi tidak diketahui1
Irsan HasanAfiliasi tidak diketahui1
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Fauzi YusufAfiliasi tidak diketahui1
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Ulfa KholiliAfiliasi tidak diketahui1
Fandy GosalAfiliasi tidak diketahui1
Gita ApriliciaAfiliasi tidak diketahui1
Hery Djagat PurnomoAfiliasi tidak diketahui1
Cecilia O PermatawediAfiliasi tidak diketahui1
Tehar Karo-KaroAfiliasi tidak diketahui1
Haris WiditaAfiliasi tidak diketahui1
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Sumber metadata: OAI-PMH (metadata jurnal) http://www.actamedindones.org/index.php/ijim/oai, pertama di-harvest 8 Nov 2026, terakhir terlihat 8 Nov 2026.
Metadata asli (oai_dc) 
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	<dc:title xml:lang="en-US">Liver Cirrhosis in Woman with Ciliopathy Syndrome</dc:title>
	<dc:creator>Mustika, Syifa</dc:creator>
	<dc:creator>Hasanah, Dian</dc:creator>
	<dc:subject xml:lang="en-US">short stature</dc:subject>
	<dc:subject xml:lang="en-US">brachydactyly</dc:subject>
	<dc:subject xml:lang="en-US">insulin resistance</dc:subject>
	<dc:subject xml:lang="en-US">cirrhosis</dc:subject>
	<dc:subject xml:lang="en-US">ciliopathy</dc:subject>
	<dc:subject xml:lang="en-US">hepatology</dc:subject>
	<dc:description xml:lang="en-US">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.</dc:description>
	<dc:publisher xml:lang="en-US">The Indonesian Society of Internal Medicine</dc:publisher>
	<dc:date>2022-04-08</dc:date>
	<dc:type>info:eu-repo/semantics/article</dc:type>
	<dc:type>info:eu-repo/semantics/publishedVersion</dc:type>
	<dc:format>application/pdf</dc:format>
	<dc:identifier>http://www.actamedindones.org/index.php/ijim/article/view/743</dc:identifier>
	<dc:source xml:lang="en-US">Acta Medica Indonesiana; Vol. 54 No. 1 (2022): Acta Medica Indonesiana; 114</dc:source>
	<dc:source>2338-2732</dc:source>
	<dc:source>0125-9326</dc:source>
	<dc:language>eng</dc:language>
	<dc:relation>http://www.actamedindones.org/index.php/ijim/article/view/743/pdf</dc:relation>
	<dc:rights xml:lang="en-US">Copyright (c) 2022 Acta Medica Indonesiana</dc:rights>
</oai_dc:dc>