Polycystic Liver Disease: Pathophysiology, Diagnosis and Treatment.

Polycystic liver disease (PLD) is a clinical condition characterized by the presence of more than 10 cysts in the liver. It is a rare disease Of genetic etiology that presents as an isolated disease or assoc\iated with polycystic kidney disease. Ductal plate malformation, ciliary dysfunction, and changes in cell signaling are the main factors involved in its pathogenesis. Most patients with PLD are asymptomatic, but in 2-5% of cases the disease has disabling symptoms and a significant reduction in quality of life. The diagnosis is based on family history of hepatic and/or renal polycystic disease, clinical manifestations, patient age, and polycystic liver phenotype shown on imaging examinations. PLD treatment has evolved considerably in the last decades. Somatostatin analogues hold promise in controlling disease progression, but liver transplantation remains a unique curative treatment modality.

Effectiveness of Open Fenestration for Autosomal Dominant Polycystic Liver Disease.

Autosomal dominant polycystic liver disease (ADPLD) is a rare disease with variable clinical presentations, characterized by cystic enlargement of the liver. The diagnosis is made based on family history, patient's age, and liver phenotype and is confirmed by imaging tests. The treatment aims to reduce symptoms caused by the increased liver volume and can be performed by aspiration with sclerotherapy, fenestration, and liver resection. Although ADPLD is a rare disease, it is an important differential diagnosis of cystic diseases such as polycystic kidney disease; therefore, the aim of this article was to present the diagnostic and therapeutic approach of a case of ADPLD and conducting a literature review. This is the case of a 32-year-old male patient, who was hospitalized due to abdominal pain, hepatomegaly, lack of appetite, and weight loss. Imaging propaedeutics showed a significant increase in the liver volume due to hepatic cysts. After a multidisciplinary evaluation, given the clinical changes and the location of the hepatic cysts, fenestration was performed by laparotomy. The postoperative period was uneventful. The treatment was efficient in promoting symptomatic relief and improving the quality of life in this patient. Case reports on this disease are quite limited in the currently available literature, and there are gaps in knowledge with regard to the diagnosis and management of ADPLD. The importance of this article is that it will highlight the limitations in treatment options and allow physicians to make a more informed decision when diagnosing and treating a patient with ADPLD in the future.

Pulmonary Tuberculosis After Therapy with Anti-Tumor Necrosis Factor (TNF) for Crohn Disease: A Case Report.

BACKGROUND Adalimumab is a biological anti-tumor necrosis factor (TNF) agent which induces and maintains remission in patients with moderate-to-severe Crohn disease (CD). An adverse effect of its use is reactivation of latent infections, such as tuberculosis (TB). TB is caused by Mycobacterium tuberculosis and continues to be an important public health problem in some developing countries, such as Brazil. The present report describes the case of a patient with CD who developed pulmonary TB while receiving adalimumab therapy. CASE REPORT A 38-year-old penitentiary worker presented with colonic CD that was intolerant to azathioprine and was started on adalimumab. After 3 months, he experienced coughing, fever, and weight loss, and was diagnosed with pulmonary TB. A chest X-ray and tuberculin skin test performed before he started taking adalimumab were negative for latent TB. The patient was treated for 9 months to cure his infection. The use of adalimumab was suspended while the TB was investigated and he took mesalazine to achieve clinical and endoscopic remission of CD. CONCLUSIONS Adequate screening and chemoprophylaxis for latent TB are indicated in patients at high risk of infection. In patients with inflammatory bowel disease, after anti-TNF therapy is started, strict monitoring is required so that opportunistic infections can be detected early and morbidity and mortality reduced in this population.

Mixed and disseminated paracoccidioidomycosis after liver transplantation: Case report.

Paracoccidioidomycosis (PCM) is a systemic granulomatous fungal infection rarely associated with solid organ transplantation. We report the second case of PCM in an adult after liver transplantation. A 47-year-old woman who had undergone liver transplantation was hospitalized for flu-like symptoms and multiple erythematous ulcerated skin papules. There was lymphadenopathy, pulmonary compromise, and quickly progression to septic shock. PCM was confirmed by skin biopsy and serologic tests, and a satisfactory response to amphotericin B was achieved.