Eosinophilic solid and cystic renal cell carcinoma with aggressive behavior:Two case reports

BACKGROUND Eosinophilic solid and cystic(ESC)renal cell carcinoma(RCC),a unique and emerging subtype of RCC,has an indolent nature;in some rare instances,it may exhibit metastatic potential.Current cases are inadequate to precisely predict the clinical outcome of ESC RCC and determine treatment choices.CASE SUMMARY Herein,we report two patients with ESC RCC.Patient 1 was a young woman with classical pathological characteristics.Patient 2 was a 52-year-old man with multifocal metastases,involving the pulmonary hilar and mediastinal lymph nodes,liver,brain,mesosternum,vertebra,rib,femur,and symphysis pubis.Awareness of ESC RCC,along with its characteristic architecture and immunophenotype,would contribute to making a definitive diagnosis,even on core biopsy samples.CONCLUSION The discovery of ESC RCC molecular signatures may provide new therapeutic strategies in the future.

Clinicopathological characteristics and typing of multilocular cystic renal neoplasm of low malignant potential

BACKGROUND Up until now,no research has been reported on the association between the cli-nical growth rate of multilocular cystic renal neoplasm of low malignant potential(MCRNLMP)and computed tomography(CT)imaging characteristics.Our study sought to examine the correlation between them,with the objective of distin-guishing unique features of MCRNLMP from renal cysts and exploring effective management strategies.AIM To investigate optimal management strategies of MCRNLMP.METHODS We retrospectively collected and analyzed data from 1520 patients,comprising 1444 with renal cysts and 76 with MCRNLMP,who underwent renal cyst decom-pression,radical nephrectomy,or nephron-sparing surgery for renal cystic disease between January 2013 and December 2021 at our institution.Detection of MC-RNLMP utilized the Bosniak classification for imaging and the 2016 World Health Organization criteria for clinical pathology.RESULTS Our meticulous exploration has revealed compelling findings on the occurrence of MCRNLMP.Precisely,it comprises 1.48%of all cases involving simple renal cysts,5.26%of those with complex renal cysts,and a noteworthy 12.11%of renal tumors coexisting with renal cysts,indicating a statistically significant difference(P=0.001).Moreover,MCRNLMP constituted a significant 22.37%of the patient po-pulation whose cysts demonstrated a rapid growth rate of≥2.0 cm/year,whereas it only represented 0.66%among those with a growth rate below 2.0 cm/year.Of the 76 MCRNLMP cases studied,none of the nine patients who underwent subsequent nephron-sparing surgery or radical nephrectomy following renal cyst decompression experienced recurrence or metastasis.In the remaining 67 patients,who were actively monitored over a 3-year postoperative period,only one showed suspicious recurrence on CT scans.CONCLUSION MCRNLMP can be tentatively identified and categorized into three types based on CT scanning and growth rate indicators.In treating MCRNLMP,partial nephrectomy is preferred,while radical nephrectomy should be minimi-zed.After surgery,active monitoring is advisable to prevent unnecessary nephrectomy.

Incidental renal cell carcinoma post bilateral nephrectomy in autosomal dominant polycystic kidney disease

BACKGROUND Renal cell carcinoma(RCC)is more common in patients with autosomal dominant polycystic kidney disease(ADPKD)than in the general population.Diagnosing RCC in ADPKD is challenging due to the presence of multiple renal cysts,often leading to delays and difficulties in distinguishing RCC from cyst infection or hemorrhage.A total of 38 kidneys were excised from 19 patients,with a mean age of 56.8 years and an average hemodialysis duration of 84.2 months.Eight patients underwent open nephrectomies,and 11 underwent hand-assisted laparoscopic nephrec-tomies.RCC was detected in 15.8%of kidneys,affecting 21.1%of patients.Two patients had multifocal RCC in both kidneys.All RCC cases were pT1 stage,with the largest lesion averaging 16.5 mm in diameter.The average operative duration was 120 minutes,with intraoperative blood loss averaging 184.2 mL.Five patients required blood transfusions.Postoperative complications occurred in five patients,with a mean hospital stay of 17.1 days.The mean follow-up period was 28.1 months.CONCLUSION The prevalence of RCC is higher in patients with ADPKD with ESRD than in those with ESRD alone.Thus,clinicians should be cautious and implement surveillance programs to monitor the development of RCC in patients with ADPKD,particularly those on dialysis.

Safety and efficacy of transcatheter arterial embolization in autosomal dominant polycystic kidney patients with gross hematuria: Six case reports

BACKGROUND To retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating autosomal dominant polycystic kidney disease(ADPKD)patients with gross hematuria.CASE SUMMARY The purpose of this study is to retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating ADPKD patients with gross hematuria.Materials and methods:During the period from January 2018 to December 2019,renal transcatheter arterial embolization was carried out on 6 patients with polycystic kidneys and gross hematuria.Renal arteriography was performed first,and then we determined the location of the hemorrhage and performed embolization under digital subtraction angiography monitoring.Improvements in routine blood test results,routine urine test results,urine color and postoperative reactions were observed and analyzed.Results:Renal transcatheter arterial embolization was successfully conducted in 6 patients.The indices of 5 patients and the color of gross hematuria improved after surgery compared with before surgery.No severe complication reactions occurred.CONCLUSION For autosomal dominant polycystic kidney syndrome patients with gross hematuria,transcatheter arterial embolization was safe and effective.

SONOGRAPHIC PATTERNS AND DIFFERENTIAL DIAGNOSIS OF CYSTIC RENAL CARCINOMAS

OBJECTIVE: To study the sonographic features and patterns of cystic renal carcinomas. METHODS: Thirteen cases of cystic renal carcinoma confirmed by operation and pathology were examined by ultrasonography, and the cystic walls, septa and solid mural nodules were studied. RESULTS: Solid mural nodules of some cases and irregular thickening of the cystic walls and septa were characteristic findings for the ultrasonic diagnosis of cystic renal carcinomas. According to their pathologic mechanisms and sonographic features, cystic renal carcinomas were classified into 3 patterns: unilocular cystic mass, multiloculated cystic mass and cystic-solid mass. CONCLUSIONS: Typical cystic renal carcinomas can be well diagnosed, while atypical cases may be misdiagnosed as benign renal cysts by ultrasonography. Color Doppler ultrasonography and needle aspiration guided by ultrasonography are helpful in the diagnosis of these atypical cases.

Recurrent renal cell carcinoma leading to a misdiagnosis of polycystic liver disease: A case report

BACKGROUND Polycystic liver disease(PCLD) with a large cystic volume deteriorates the quality of life of patients through substantial effects on the adjacent organs,recurrent cyst infections, cyst rupture, and hemorrhage. Surgical or radiological intervention is usually needed to alleviate these symptoms. We report a rare case of the cystic metastasis of renal cell carcinoma(RCC), which was misdiagnosed as PCLD, as a result of the clinical and radiological similarity between these disorders.CASE SUMMARY A 74-year-old female who had undergone nephrectomy for papillary-type RCC(PRCC) was suffering from abdominal pain and the recurrent intracystic hemorrhage of multiple cysts in the liver. Imaging studies and aspiration cytology of the cysts showed no evidence of malignancy. With a diagnosis of autosomal dominant polycystic liver disease, the patient received hepatectomy for the purpose of mass reduction and infectious cyst removal. Surgery was performed without complications, and the patient was discharged on postoperative day 14. Postoperatively, the pathology revealed a diagnosis of recurrent PRCC with cystic formation.CONCLUSION This case demonstrates the importance of excluding the cystic metastasis of a cancer when liver cysts are observed.

Multilocular Cystic Renal Cell Carcinoma:A Series of 8 Cases and Review of the Literature

OBJECTIVE To study the clinical, pathologic and imaging features of multilocular cystic renal cell carcinoma （MCRCC） and to review the diagnosis and treatment of this subtype of renal cell carcinoma （RCC）. METHODS The data from 8 cases （mean age, 49.4; 5 men and 3 women） who had been treated from 2004 to 2006, were reviewed retrospectively. Radiologic and pathologic documents were evaluated. For treatments, radical nephrectomy was conducted in 4 patients, partial nephrectomy in 2 and laparoscopic nephrectomy in 2. RESULTS Postoperative pathological findings confirmed the diagnosis of MCRCC. The stage of all 8 cases was pT1. For pathologic grade, 7 cases were G1 and 1 case was G2. Seven patients available for follow-up had survived tumor-free during the mean time of 8 months. CONCLUSION MCRCC is an uncommon subtype of RCC, it has a lower malignant potential and a better prognosis compared with other types of RCC. Nephron-sparing surgery may be an appropriate treatment options for MCRCC.

OFD1 mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China

BACKGROUND Oral-facial-digital syndrome type 1(OFD1) is a rare ciliopathy mainly with an Xlinked dominant pattern of inheritance, which is caused by mutations in the OFD1 gene. The OFD1 protein is located within the centrosomes and basal bodies of the primary cilia. It is reported that approximately 15%–50% cases of OFD1 progress to end-stage renal disease(ESRD) following development of polycystic kidney diseases(PKD). Here we report a pair of childhood male twins who presented only renal failure and PKD caused by an OFD1 mutation in China.CASE SUMMARY A pair of 14-year male twins were hospitalized with a complaint of abnormal renal function for nine days. They both complained of ankle pain for 3 mo vs 2 wk, respectively. They denied fever, abdominal pain, daytime or nighttime enuresis, urgency, dysuria, or gross hematuria. Laboratory tests at a local hospital showed renal failure(serum creatinine 485 μmol/L vs 442 μmol/L, blood urea nitrogen 14.7 mol/L vs 14.5 mol/L) and anemia(hemoglobin 88 g/L vs 98 g/L).The twins are monozygotic. There was no abnormal birth, past medical, or family history. Clinical data were analyzed and genetic analysis on PKD was carried out in the twins by next-generation sequencing. The results showed that the twins presented low-molecular-weight proteinuria, hyposthenuria, anemia, renal failure, and renal polycystic changes. Genetic tests showed that the twins both carried a hemizygous mutation in exon 19 c.2524 G>A(p. G842 R) of the OFD1 gene. Their mother heterozygously carried the same mutation as the twins but was without any phenotypes while their father was normal.CONCLUSION We have reported a pair of childhood male twins with an OFD1 mutation who presented ESRD and PKD but without any other phenotypes of OFD1 in China.

The Clinical Association of Autosomal Dominant Polycystic Kidney Disease and renal cell Carcinoma

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is not currently considered to be a risk factor for renal cell carcinoma (RCC). We present data from our institution demonstrating incidence of RCC with ADPKD above the incidence rate for RCC in the general population, as well as that in patients with end-stage renal disease (ESRD). The discussion relates our findings in the context of the current literature including recent case reports published in this entity.

Pulmonary cystic disease associated with integumentary and renal manifestations

A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed to- mography （CT） scanning, as well as a left kidney mass. This patient exhibited a rare complex of renal, cutaneous and pulmonary manifestations, eponymously named Birt-Hogg-Dube syndrome, with characteristic skin features （fibrofolliculomas, trichodiscomas and acrochordons）. This syndrome is due to an autosomal dominant germ-line mutation of thefolliculin （FLCN） gene located at chromosome 17p11.2. Diagnosis and differentiation from other disease complexes including the skin, kidneys and lungs are important in prognostication and management of po- tentially life-threatening complications such as renal cell carcinoma and pneumothoraces.

Cytoprotection behind heme oxygenase-1 in renal diseases

Renal insults are considered a public health problem and are linked to increased rates of morbidity and mortality worldwide. The heme oxygenase(HO) system consists of evolutionary specialized machinery that degrades free heme and produces carbon monoxide, biliverdin and free iron. In this sense, the inducible isoform HO-1 seems to develop an important role and is widely studied. The reaction involved with the HO-1 molecule provides protection to injured tissue, directly by reducing the toxic heme molecule and indirectly by the release of its byproducts. The up regulation of HO-1 enzyme has largely been described as providing antioxidant, antiapoptotic, anti-inflammatory and immunomodulatory properties. Several works have explored the importance of HO-1 in renal diseases and they have provided consistent evidence that its overexpression has beneficial effects in such injuries. So, in this review we will focus on the role of HO-1 in kidney insults, exploring the protective effects of its up regulation and the enhanced deleterious effects of its inhibition or gene deletion.

Unexplained Crying Episodes Reveling a Cystic Nephromas

Cystic nephromas (CNs) are uncommon, benign renal neoplasms reported in infants/young children of both genders and in adult females, concerning the pediatric population few studies have been conducted. The diagnosis of cystic nephroma is based on clinical signs, imaging tests, and anatomo-pathological study. In children, CNs can appear as a palpable abdominal mass in most of cases, hematuria or recurrent urinary infections. They are characterized by multycystic architecture and the exclusive presence of mature nephrogenic elements. Treatment is surgical with a very good prognosis in most of cases. We are going to report a case of a 13-month-old girl child diagnosed with Cystic nephromas who presented to pediatric emergency with unexplained crying episodes in order to increase clinicians awareness about this rare tumor.

Understanding the Use of Radix Astragali Seu Hedysari in the Treatment of Edema Due to Renal Diseases

Radix Astragali seu Hedysari is warm in nature and slightly sweet in taste.It belongs to the lung,spleen,and kidney meridians.It passes through a waterway,dredges the triple energizer,and has a significant effect on edema due to renal diseases.Ancient doctors believed that Radix Astragali seu Hedysari is excellent in tonifying the middle,supplementing Qi,and dredging through the triple energizer.In modem times,many doctors have found that whether it is used as a single drug or in combination with other drugs,it is widely used in clinical practice and has a good effect in inducing diuresis.

Acute Effects of Tolvaptan on Renal Hemodynamics in Autosomal Dominant Polycystic Kidney Disease —A Randomized, Cross-Over, Double Blind, Placebo-Controlled Study of Renal Plasma Flow and Glomerular Filtration Rate

Background: Previous studies have shown that reduced renal plasma flow (RPF) may play a role in progression of renal disease in autosomal dominant polycystic kidney disease (ADPKD). Tolvaptan, a vasopressin 2 antagonist, reduces growth of total kidney volume and slows the decrease in estimated glomerular filtration rate (eGFR) in ADPKD. The purpose of this randomized, cross-over, double-blind, placebo-controlled study was to investigate if acute tolvaptan treatment increases RPF in ADPKD patients. Methods: Eighteen ADPKD patients (chronic kidney disease stages I-III) were investigated twice (min. 10 days apart) after acute treatment with either tolvaptan 60 mg or placebo. Two hours after treatment RPF and GFR were estimated by Technetium-99m diethylenetriamine penta-acetic acid (99-mTc-DTPA) renography. During the examination day, central and brachial blood pressures (BP) were measured using Mobil-O-Graph? PWA. We also measured plasma concentrations of vasopressin (p-AVP), renin (PRC), angiotensin II (p-AngII) and aldosterone (p-Aldo), urine excretion of aquaporin 2 (u-AQP2), urine output (OU), urine osmolality (u-Osm) and fractional excretion of sodium (FENa). Results: 99-mTc-DTPA renography showed a similar RPF (673 ± 262 ml/min after tolvaptan vs. 650 ± 209 ml/min after placebo, p = 0.571) and GFR (78 ± 26 ml/min after tolvaptan vs. 79 ± 21 ml/min after placebo p = 0.774) after tolvaptan and placebo treatment. P-AVP and UO increased and u-Osm decreased after tolvaptan and remained unchanged during placebo. Systolic BP tended to decrease during renography during tolvaptan. Very small or insignificant changes were seen in PRC, p-AngII and p-Aldo. Conclusions: Acute tolvaptan treatment did not change renal hemodynamics in ADPKD.

A clinical analysis of multilocular cystic renal cell carcinoma and its correlation with mutation of the von Hippel-Lindau gene

Objective To discuss the diagnosis and surgical management of multilocular cystic renal cell carcinoma ( MCRCC) and to evaluate the gene function of the mutation of von Hippel-Lindau ( VHL) gene in MCRCC. Methods Seventeen MCRCC cases ( 11 men and

The Choice Between Three Simple Methods for Glomerular Filtration Rate Assessment in Different Stages of Chronic Parenchymal Renal Diseases

Glomerular filtration rate （GFR） can be measured （mGFR） after intravenous application of indicators that are eliminated by kidneys or estimated （eGFR） using mathematic equations. We have compared eGFR obtained by the chronic kidney diseases epidemiology collaboration （CKD-EPI） and the Modification of diet in renal disease （MDRD） Study equations with GFR measured by technetium-99m diethylene triamine penta-acetic acid （99m^Te-DTPA） renal clearance in different stages of renal diseases in order that obtained results may contribute to more adequate choice of methods for the GFR assessment in relation to the type and stage of kidney disease. The study included a total of 189 participants with diabetes mellitus （DM）, glomerulonephritis （GN）, Balkan endemic nephropathy （BEN） and healthy subjects. 99m^Tc-DTPA clearance （ml/min/1.73 m^2） was calculated from the regression equation based on high correlation between distribution volume of radiopharmaceutical and clearance values obtained by multiple blood samples. For blood sample taken at 3 h and 4 h, clearance was calculated according to the equations： y = -0.0128x^2 ＋ 3.077x - 30.3, and y = -0.00628x^2 ＋ 2.066x - 19.3, where y is clearance, and x is distribution volume. MDRD-GFR （ml/min/l.73 m2） was calculated from equation： 186 × Scr^-1154 × age^-0.203 × 0.742 if female. CKD-EPI-GFR was calculated from equation： 141 × min（Scr/K, 1）^ α ×max（Scr/K, 1）^-1 209 × 0.993age × 1.018 if female, where Scr is serum creatinine, n is 0.7 for females and 0.9 for males, c~ is -0.329 for females and -0.411 for males, min indicates the minimum of Scr/K or 1, and max indicates the maximum of Scr/κ or 1. Irrespective of renal disease, both equations underestimated radionuclide clearance at mGFR 〉 90 ml/min/1.73 m^2 （91.7 ± 18.8 and 88.2 ± 22.0 vs. 121± 19.6, p〈0.0001） and at mGFR 60-89 ml/min/1.73 m^2 （67.1 ±19.9 and 65.8 ± 19.9 vs. 75.8 ± 9.2, p 〈 0.05 and p 〈 0.005）. They were also significantly lower than mGFR in DM patients with GFR 〉_ 90 ml/min/1.73 m^2. In patients with GFR 〉 60 ml/min/1.73 m^2, the median bias of CKD-EPI equation was lower and accuracy （percent of eGFR within 30% of mGFR, P30） was higher than that of MDRD equation. Nevertheless, in DM patients with GFR _〉 90 ml/min the accuracy of the former equation is significantly better than that of MDRD formula. Patients GFR 〈 60 ml/min had the similar bias and accuracy both eGFR equations. As CKD-EPI equation has lesser bias and improved accuracy than MDRD equation in patients with GFR 〉 60 ml/min, we suggest its use for prediction of GFR at higher renal function levels. However, underestimation of renal function by CKD-EPI equation seems not to be quite appropriate in diabetic patients with expected GFR above 90 ml/min because it may miss the patients with glomerular hyperfiltration. Thus, priority may be given to 99m^Tc-DTPA clearance method in the earlier stages of kidney diseases in type 1 diabetes mellitus. At last, in patients with expected GFR 〈 60 ml/min, it is better to monitor disease progression by estimating equations than by 99m^Tc-DTPA renal clearance, due to their simpler implementation.

Lumacaftor/ivacaftor therapy is associated with reduced hepatic steatosis in cystic fibrosis patients

BACKGROUND Hepatic steatosis is a common form of cystic fibrosis associated liver disease(CFLD)seen in an estimated 15%-60%of patients with cystic fibrosis(CF).The pathophysiology and health implications of hepatic steatosis in cystic fibrosis remain largely unknown.In the general population,hepatic steatosis is strongly associated with insulin resistance and type 2 diabetes.Cystic fibrosis related diabetes(CFRD)impacts 40%-50%of CF adults and is characterized by both insulin insufficiency and insulin resistance.We hypothesized that patients with CFRD would have higher levels of hepatic steatosis than cystic fibrosis patients without diabetes.AIM To determine whether CFRD is associated with hepatic steatosis and to explore the impact of lumacaftor/ivacaftor therapy on hepatic steatosis in CF.METHODS Thirty patients with CF were recruited from a tertiary care medical center for this cross-sectional study.Only pancreatic insufficient patients with CFRD or normal glucose tolerance(NGT)were included.Patients with established CFLD,end stage lung disease,or persistently elevated liver enzymes were excluded.Mean magnetic resonance imaging(MRI)proton density fat fraction(PDFF)was obtained for all participants.Clinical characteristics[age,sex,body mass index,percent predicted forced expiratory volume at 1 s(FEV1),lumacaftor/ivacaftor use]and blood chemistries were assessed for possible association with hepatic steatosis.Hepatic steatosis was defined as a mean MRI PDFF>5%.Patients were grouped by diabetes status(CFRD,NGT)and cystic fibrosis transmembrane conductance regulator(CFTR)modulator use(lumacaftor/ivacaftor,no lumacaftor/ivacaftor)to determine between group differences.Continuous variables were analyzed with a Wilcoxon rank sum test and discrete variables with a Chi square test or Fisher’s exact test.RESULTS Twenty subjects were included in the final analysis.The median age was 22.3 years(11.3-39.0)and median FEV1 was 77%(33%-105%).Twelve subjects had CFRD and 8 had NGT.Nine subjects were receiving lumacaftor/ivacaftor.The median PDFF was 3.0%(0.0%-21.0%).Six subjects(30%)had hepatic steatosis defined as PDFF>5%.Hepatic fat fraction was significantly lower in patients receiving lumacaftor/ivacaftor(median,range)(2.0%,0.0%-6.4%)than in patients not receiving lumacaftor/ivacaftor(4.1%,2.7-21.0%),P=0.002.Though patients with CFRD had lower PDFF(2.2%,0.0%-14.5%)than patients with NGT(4.9%,2.4-21.0%)this did not reach statistical significance,P=0.06.No other clinical characteristic was strongly associated with hepatic steatosis.CONCLUSION Use of the CFTR modulator lumacaftor/ivacaftor was associated with significantly lower hepatic steatosis.No association between CFRD and hepatic steatosis was found in this cohort.

Evaluation of hepatic cystic lesions

Hepatic cysts are increasingly found as a mere coincidence on abdominal imaging techniques, such as ultrasonography (USG), computed tomography (CT) and magnetic resonance imaging (MRI). These cysts often present a diagnostic challenge. Therefore, we performed a review of the recent literature and developed an evidence-based diagnostic algorithm to guide clinicians in characterising these lesions. Simple cysts are the most common cystic liver disease, and diagnosis is based on typical USG characteristics. Serodiagnostic tests and microbubble contrast-enhanced ultrasound (CEUS) are invaluable in differentiating complicated cysts, echinococcosis and cystadenoma/cystadenocarcinoma when USG, CT and MRI show ambiguous findings. Therefore, serodiagnostic tests and CEUS reduce the need for invasive procedures. Polycystic liver disease (PLD) is arbitrarily defined as the presence of > 20 liver cysts and can present as two distinct genetic disorders: autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (PCLD). Although genetic testing for ADPKD and PCLD is possible, it is rarely performed because it does not affect the therapeutic management of PLD. USG screening of the liver and both kidneys combined with extensive family history taking are the cornerstone of diagnostic decision making in PLD. In conclusion, an amalgamation of these recent advances results in a diagnostic algorithm that facilitates evidence-based clinical decision making.

Rare cystic liver lesions: A diagnostic and managing challenge

Cystic formations within the liver are a frequent finding among populations.Besides the common cystic lesions,like simple liver cysts,rare cystic liver lesions like cystadenocarcinoma should also be considered in the differential diagnosis.Thorough knowledge of each entity’s nature and course are key elements to successful treatment.Detailed search in PubMed,Cochrane Database,and international published literature regarding rare cystic liver lesions was carried out.In our research are included not only primary rare lesions like cystadenoma,hydatid cyst,and polycystic liver disease,but also secondary ones like metastasis from gastrointestinal stromal tumors lesions.Up-to date knowledge regarding diagnosis and management of rare cystic liver lesions is provided.A diagnostic and therapeutic algorithm is also proposed.The need for a multidisciplinary approach by a team including radiologists and surgeons familiar with liver cystic entities,diagnostic tools,and treatment modalities is stressed.Patients with cystic liver lesions must be carefully evaluated by a multidisciplinary team,in order to receive the most appropriate treatment,since many cystic liver lesions have a malignant potential and evolution.

Cystic fibrosis associated liver disease in children

Cystic fibrosis(CF)is an autosomal recessive disorder caused by mutations in the CF transmembrane conductance regulator gene.CF liver disease develops in 5%-10%of patients with CF and is the third leading cause of death among patients with CF after pulmonary disease or lung transplant complications.We review the pathogenesis,clinical presentations,complications,diagnostic evaluation,effect of medical therapies especially CF transmembrane conductance regulator modulators and liver transplantation in CF associated liver disease.