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A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report
RATIONALE: Ciliopathies is a group of clinically and genetically overlapping disorders due to cilia abnormalities and multiple organ systems are involved in. PATIENT CONCERNS: We present a young female patient who showed renal function impairment, Caroli syndrome (CS), liver cirrhosis, polycystic ov...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320131/ https://www.ncbi.nlm.nih.gov/pubmed/30558011 http://dx.doi.org/10.1097/MD.0000000000013531 |
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author | Tan, Kangan Liu, Peng Pang, Lili Yang, Wanna Hou, Fengqin |
author_facet | Tan, Kangan Liu, Peng Pang, Lili Yang, Wanna Hou, Fengqin |
author_sort | Tan, Kangan |
collection | PubMed |
description | RATIONALE: Ciliopathies is a group of clinically and genetically overlapping disorders due to cilia abnormalities and multiple organ systems are involved in. PATIENT CONCERNS: We present a young female patient who showed renal function impairment, Caroli syndrome (CS), liver cirrhosis, polycystic ovarian syndrome, and multiple subcutaneous cysts. DIAGNOSES: The patient was diagnosed with ciliopathy according to the clinical manifestations and whole-genome sequencing. INTERVENTIONS: She received treatment of intravenous albumin, polyene phosphatidyl choline, furosemide, and antisterone. OUTCOMES: The patient showed clinical improvement in her edema and liver tests, and ultrasonography revealed that the ascites had disappeared. Unfortunately, the edema relapsed a year later. The patient received the same treatment as before, and there was clinical improvement of the edema. Since the family cannot afford liver and kidney transplantation, the patient only accepted symptomatic treatment. LESSONS: Polycystic ovarian syndrome and multiple subcutaneous cysts have never before been reported to be associated with ciliopathy. This finding could remind doctors to consider the possibility of ciliopathy disease for patients suffering from similar conditions. In addition, the phenotype of the patient differs from those of patients reported with the same mutations, which also reminds doctors that the clinical manifestation of a given mutation may show patient-specific differences. This case report extends the phenotypic spectrum of ciliopathy, and these findings might represent a new ciliopathy syndrome, which could facilitate the diagnosis of ciliopathies. |
format | Online Article Text |
id | pubmed-6320131 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-63201312019-01-14 A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report Tan, Kangan Liu, Peng Pang, Lili Yang, Wanna Hou, Fengqin Medicine (Baltimore) Research Article RATIONALE: Ciliopathies is a group of clinically and genetically overlapping disorders due to cilia abnormalities and multiple organ systems are involved in. PATIENT CONCERNS: We present a young female patient who showed renal function impairment, Caroli syndrome (CS), liver cirrhosis, polycystic ovarian syndrome, and multiple subcutaneous cysts. DIAGNOSES: The patient was diagnosed with ciliopathy according to the clinical manifestations and whole-genome sequencing. INTERVENTIONS: She received treatment of intravenous albumin, polyene phosphatidyl choline, furosemide, and antisterone. OUTCOMES: The patient showed clinical improvement in her edema and liver tests, and ultrasonography revealed that the ascites had disappeared. Unfortunately, the edema relapsed a year later. The patient received the same treatment as before, and there was clinical improvement of the edema. Since the family cannot afford liver and kidney transplantation, the patient only accepted symptomatic treatment. LESSONS: Polycystic ovarian syndrome and multiple subcutaneous cysts have never before been reported to be associated with ciliopathy. This finding could remind doctors to consider the possibility of ciliopathy disease for patients suffering from similar conditions. In addition, the phenotype of the patient differs from those of patients reported with the same mutations, which also reminds doctors that the clinical manifestation of a given mutation may show patient-specific differences. This case report extends the phenotypic spectrum of ciliopathy, and these findings might represent a new ciliopathy syndrome, which could facilitate the diagnosis of ciliopathies. Wolters Kluwer Health 2018-12-14 /pmc/articles/PMC6320131/ /pubmed/30558011 http://dx.doi.org/10.1097/MD.0000000000013531 Text en Copyright © 2018 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial License 4.0 (CCBY-NC), where it is permissible to download, share, remix, transform, and buildup the work provided it is properly cited. The work cannot be used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc/4.0 |
spellingShingle | Research Article Tan, Kangan Liu, Peng Pang, Lili Yang, Wanna Hou, Fengqin A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report |
title | A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report |
title_full | A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report |
title_fullStr | A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report |
title_full_unstemmed | A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report |
title_short | A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report |
title_sort | human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: a rare case report |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320131/ https://www.ncbi.nlm.nih.gov/pubmed/30558011 http://dx.doi.org/10.1097/MD.0000000000013531 |
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