A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report.

ABSTRACT:

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

SUBMITTER: Tan K 

PROVIDER: S-EPMC6320131 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature