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1.
Ned Tijdschr Geneeskd ; 1662022 04 06.
Artigo em Holandês | MEDLINE | ID: mdl-35499591

RESUMO

BACKGROUND: Jaundice is a clinical symptom as a result of cholestasis. It can be caused by a wide variety of disorders. Its differential diagnosis is broad. Therefore, it is important to determine whether the cause of the cholestasis is intrahepatic, hepatic or extrahepatic. Case description This article describes a 61-year-old male who was referred to our Gastroenterology Department. Transabdominal ultrasound showed dilatation of intrahepatic bile ducts and the common bile duct, probably caused by a sludge ball. He underwent an ERCP during which a mass instead of a gallstone was extracted. Histological examination showed (a metastasis of) a melanoma. The patient was referred to the dermatologist who found a melanoma on the chest. The final diagnosis was metastasis of melanoma to the common bile duct. CONCLUSION: Jaundice can be caused by a variety of disorders. A systematic approach based on signs and symptoms is essential to recognize uncommon diagnoses without unnecessary delay.


Assuntos
Colestase , Cálculos Biliares , Icterícia , Melanoma , Ductos Biliares Intra-Hepáticos , Colestase/etiologia , Cálculos Biliares/complicações , Humanos , Icterícia/diagnóstico , Icterícia/etiologia , Masculino , Melanoma/complicações , Melanoma/diagnóstico , Pessoa de Meia-Idade
2.
Medicine (Baltimore) ; 101(10): e29048, 2022 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-35451417

RESUMO

ABSTRACT: Percutaneous drainage catheters (PDCs) are required for the management of benign biliary strictures refractory to first-line endoscopic treatment. While biliary patency after PDC placement exceeds 75%, long-term catheterization is occasionally necessary. In this article, we assess the outcomes of patients at our institution who required long-term PDC placement.A single-institution retrospective analysis was performed on patients who required a PDC for 10 years or longer for the management of a benign biliary stricture. The primary outcome was uncomplicated drain management without infection or complication. Drain replacement was performed every 4 to 12 weeks as an outpatient procedure.Nine patients (three males and six females; age range of 48-96 years) required a long-term PDC; eight patients required the long-term PDC for an anastomotic stricture and one for iatrogenic bile duct stenosis. A long-term PDC was required for residual stenosis or patient refusal. Drain placement ranged from 157 to 408 months. In seven patients, intrahepatic stones developed, while in one patient each, intrahepatic cholangiocarcinoma or hepatocellular carcinoma occurred.Long-term PDC has a high rate of complications; therefore, to avoid the need for using long-term placement, careful observation or early surgical interventions are required.


Assuntos
Colestase , Complicações Pós-Operatórias , Idoso , Idoso de 80 Anos ou mais , Colestase/etiologia , Colestase/cirurgia , Constrição Patológica/etiologia , Constrição Patológica/cirurgia , Drenagem/efeitos adversos , Drenagem/métodos , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/complicações , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Resultado do Tratamento
3.
Zhonghua Nei Ke Za Zhi ; 61(5): 488-495, 2022 May 01.
Artigo em Chinês | MEDLINE | ID: mdl-35488598

RESUMO

Endobiliary radiofrequency ablation (EB-RFA) is a novel therapy for malignant biliary obstruction (MBO), which is considered as a palliative treatment for MBO caused by cholangiocarcinoma, pancreatic head carcinoma, metastatic lymphadenopathy and other causes. Due to the advantages of minimal invasiveness and repeatability, EB-RFA plays an important role in the combination of stent implantation in the initial treatment of MBO or in the recanalization of stent stenosis/obstruction. In this expert consensus, the indications, contraindications, operation protocol and evaluation criteria of efficacy of EB-RFA were sufficiently discussed, which was organized by the Professional Committee of Minimally Invasive Therapy of China Anti-cancer Association.


Assuntos
Ablação por Cateter , Colestase , Ablação por Radiofrequência , Ablação por Cateter/efeitos adversos , Colestase/etiologia , Consenso , Humanos , Neoplasias Pancreáticas , Ablação por Radiofrequência/efeitos adversos , Resultado do Tratamento
4.
Medicina (Kaunas) ; 58(4)2022 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-35454371

RESUMO

Background and Objectives: Endoscopic ultrasound-guided gastroenteric anastomosis (EUS-GEA) using lumen-apposing metal stents (LAMS) is emerging as a minimally invasive alternative to surgery across several indications. The aim of this survey is to investigate the perceived feasibility of this technique nationwide, within a working group skilled in interventional endosonography. Materials and Methods: Endoscopists were asked to answer to 49 items on a web-based questionnaire about expertise, peri- and intra-procedural aspects in the three main settings of EUS-GEA performance, budget/refund, and future perspectives. Statistical analysis was performed through SPSS® (IBM Corp. Released 2017. IBM SPSS Statistics for Windows, Version 25.0. Armonk, NY: IBM Corp.). Results: Sixty endosonographers belonging to forty Italian centers were I-EUS app users and were all invited to participate. In total, 29 participants from 24 Italian centers completed the survey. All the participants were endosonographers with a broad range of experience both in the field of EUS (only 10.3% with more than 20 years of experience) and duodenal stenting (only 6.9% placed more than 10 stents in 2020), whereas 86.2% also performed ERCP. A total of 27.6% of participants performed EUS-GEA (3.4% more than 20 during their career); on the other hand, 79.3% of participants routinely performed drainage of peri-pancreatic fluid collections, 62.1% performed biliary drainage, and 62.1% performed gallbladder drainage with LAMS. A total of 89.7% of participants thought that EUS-GEA could be useful in their daily clinical practice, with 100% concluding that this procedure will need to be performed in referral centers in the near future; however, in 55.2% of cases, organizational obstacles may occur and affect the diffusion of the procedure. With regard to indications: 44.8% of participants performed the procedure with palliative intent for malignant indication (96.6% pancreatic adenocarcinoma), and 13.6% also for benign indication. A total of 20.7% of participants experienced adverse events (none severe or fatal, 66.6% moderate). A total of 62.1% of participants considered the procedure technically challenging, although 82.8% considered the risk of adverse events acceptable when considering the benefit. Conclusions: To our knowledge, this is the first survey assessing the perceived feasibility of EUS-guided anastomoses after its advent. There are currently wide variations in practice nationwide, which demonstrate a need to define technical, qualitative, and peri-procedural requirements to carry out this procedure. Therefore, a standardization of these requirements is needed in order to overcome the technical, economical, and organizational obstacles relative to its diffusion.


Assuntos
Colestase , Endossonografia , Stents , Ultrassonografia de Intervenção , Adenocarcinoma , Anastomose Cirúrgica , Colangiopancreatografia Retrógrada Endoscópica/métodos , Colestase/etiologia , Colestase/terapia , Endossonografia/métodos , Estudos de Viabilidade , Humanos , Neoplasias Pancreáticas , Stents/efeitos adversos , Inquéritos e Questionários , Resultado do Tratamento , Ultrassonografia de Intervenção/métodos
6.
J Vis Exp ; (181)2022 03 25.
Artigo em Inglês | MEDLINE | ID: mdl-35404348

RESUMO

Patients with unresectable malignant biliary obstruction often require biliary drainage to decompress the biliary system. Endoscopic Retrograde Cholangiopancreatography (ERCP) is the primary biliary drainage method whenever possible. Percutaneous Transhepatic Biliary Drainage (PTBD) is used as a salvage method if ERCP fails. Endoscopic Ultrasound-Guided Biliary Drainage (EUS-BD) provides a feasible alternative biliary drainage method where one of the methods is EUS guided Hepaticogastrostomy (EUS-HGS). Here we describe the EUS-HGS technique in a case of unresectable malignant hilar biliary obstruction to achieve biliary drainage. Presented here is the case of a 71-year-old female with painless jaundice and weight loss for 2 weeks. Computed Tomography (CT) imaging showed a 4 x 5 cm hilar tumor with lymphadenopathy and liver metastasis. EUS fine needle biopsy (FNB) of the lesion was consistent with cholangiocarcinoma. Her bilirubin levels were 212 µmol/L (<15) during presentation. A linear echoendoscope was used to locate the left dilated intrahepatic ducts (IHD) of the liver. The segment 3 dilated IHD was identified and punctured using a 19 G needle. Contrast was used to opacify the IHDs under fluoroscopic guidance. The IHD was cannulated using a 0.025-inch guidewire. This was followed by the dilation of the fistula tract using a 6 Fr electrocautery dilator along with a 4 mm biliary balloon dilator. A partially covered metallic stent of 10 cm in length was deployed under fluoroscopic guidance. The distal part opens in the IHD and the proximal part was deployed within the working channel of the echoendoscope that subsequently released into the stomach. The patient was discharged three days after the procedure. Follow up performed in the second and fourth weeks showed that the bilirubin levels were 30 µmol/L and 14 µmol/L, respectively. This indicates that EUS-HGS is a safe method for biliary drainage in unresectable malignant biliary obstruction.


Assuntos
Neoplasias dos Ductos Biliares , Colestase , Idoso , Neoplasias dos Ductos Biliares/complicações , Neoplasias dos Ductos Biliares/diagnóstico por imagem , Neoplasias dos Ductos Biliares/cirurgia , Bilirrubina , Colestase/diagnóstico por imagem , Colestase/etiologia , Colestase/cirurgia , Feminino , Humanos , Fígado/diagnóstico por imagem , Fígado/cirurgia , Stents , Ultrassonografia de Intervenção
10.
Ann Med ; 54(1): 953-961, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35412414

RESUMO

OBJECTIVES: The large-cell Niti-S stent is useful for multiple stenting in patients with malignant hilar biliary obstruction (MHBO). Recently, a novel uncovered self-expandable metallic stent (USEMS) (a Niti-S large-cell SR slim delivery system) was developed. In this study, we aimed to evaluate the efficacy of this USEMS slim delivery system in MHBO patients. MATERIALS AND METHODS: Outcomes related to USEMS placement, the clinical course, and the period to recurrent biliary obstruction (RBO) were evaluated in MHBO patients who received multiple USEMSs with the Niti-S large-cell SR slim delivery system. RESULTS: Twenty-two MHBO patients underwent the placement of multiple USEMSs, including the novel slim-delivery stent. Six patients had a past history of upper gastrointestinal reconstruction (Billroth I: 1, Billroth II: 4, Roux-en-Y: 1). The number of USEMSs placed in each patient was 2-6. Three procedures were reinterventions. The new slim delivery system was placed as the first stent in ten patients and as an additional stent in the remaining patients. Seven patients were drained using only Niti-S large-cell SR slim delivery stents. The technical and clinical success rates were both 100%. CONCLUSIONS: Placing multiple USEMSs in patients with a past history of abdominal surgery or in reintervention is difficult. Although difficult cases were included in this study, stent-in-stent placement with the novel Niti-S large-cell SR slim delivery system was useful in treating MHBO patients. In addition, this novel stent might be the first choice for MHBO patients.KEY MESSAGESEndoscopic multistenting for MHBO is challenging. In addition, reintervention or multistenting for MHBO patients with a past history of abdominal surgery becomes more difficult.The novel Niti-S large-cell SR slim delivery USEMS is useful as an additional stent because the delivery system is thin and suitable for a 0.025 guidewire. In addition, the novel stent is of the braided type and has a large mesh. Therefore, the novel stent is expected to have strong radial force and can be used as the first SEMS.The Niti-S large-cell SR slim delivery stent is long enough to be used in patients with upper gastrointestinal reconstruction. Although this study included patients with reintervention or a past history of upper gastrointestinal reconstruction, the technical success rate of multiple stenting for MHBO patients was 100%. The slim-delivery stent might overcome several difficulties of endoscopic multistenting.


Assuntos
Neoplasias dos Ductos Biliares , Colestase , Stents Metálicos Autoexpansíveis , Neoplasias dos Ductos Biliares/complicações , Neoplasias dos Ductos Biliares/cirurgia , Colestase/etiologia , Colestase/cirurgia , Humanos , Estudos Retrospectivos , Stents Metálicos Autoexpansíveis/efeitos adversos , Stents/efeitos adversos , Resultado do Tratamento
11.
BMJ Open Gastroenterol ; 9(1)2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35301232

RESUMO

OBJECTIVE: There is a paucity of studies in the literature body evaluating short term outcomes following endoscopic retrograde cholangiopancreatography (ERCP) in patients with inoperable malignant hilar biliary obstruction (MHBO). We aimed to primarily evaluate 30-day mortality in these patients and secondarily, conduct a systematic review of studies reporting 30-day mortality. DESIGN: We conducted a retrospective analysis of all patients with inoperable MHBO who underwent ERCP at Leeds Teaching Hospitals NHS Trust between February 2015 and September 2020. Logistic regression models constructed from baseline patient data, the modified Glasgow Prognostic Score (mGPS) and Charlson Comorbidity Index (CCI) were evaluated as predictors of 30-day mortality. RESULTS: Eighty-seven patients (49 males) with a mean age of 70.4 years (SD ±12.3) were included. Cholangiocarcinoma was the most common aetiology of MHBO affecting 35/87 (40.2%). Technical success was achieved in 72/87 (82.8%). The 30-day mortality rate was 25.3% (22/87), of which 16 were due to progression of underlying malignant disease. On multivariate analysis, only leucocytosis (OR 4.12, 95% CI 2.70 to 7.41, p=0.02) was an independent predictor of 30-day mortality. Neither mGPS (p=0.47) nor CCI with a cut-off value of ≥7 (p=0.06) were significant predictors of 30-day mortality. CONCLUSION: We demonstrated that 30-day mortality following ERCP for inoperable MHBO remains high despite technical success. Further studies are warranted to identify patients most appropriate for intervention.


Assuntos
Neoplasias dos Ductos Biliares , Colestase , Idoso , Neoplasias dos Ductos Biliares/complicações , Ductos Biliares Intra-Hepáticos , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Colestase/etiologia , Colestase/cirurgia , Humanos , Masculino , Estudos Retrospectivos , Stents/efeitos adversos , Centros de Atenção Terciária
13.
Hepatobiliary Pancreat Dis Int ; 21(3): 234-240, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35304087

RESUMO

BACKGROUND: Since it was first described in 2001, endoscopic ultrasonography-guided biliary drainage (EUS-BD) has emerged as an alternative procedure for achieving an endoscopic internal drainage in case of endoscopic retrograde cholangiopancreatography (ERCP) failure. Biliary drainage can be achieved by either a transduodenal extrahepatic approach through EUS-guided choledochoduodenostomy (EUS-CDS), or a transgastric intrahepatic approach, namely EUS-guided hepaticogastrostomy (EUS-HGS) which already holds a remarkable place in the treatment of patients with malignant biliary obstruction. DATA SOURCES: For this review we did a comprehensive search of PubMed/MEDLINE from inception to May 31, 2021 for papers with a significant sample size (at least 20 patients enrolled) dealing with EUS-HGS. Data on technical success, clinical success and rate of adverse events were collected. RESULTS: A total of 22 studies with different design, comprising 874 patients, were included. Technical success was achieved in about 96% of cases (ranging from 65% to 100%). Clinical success was obtained in almost 91% of cases (ranging from 76% to 100%). Overall rate of adverse events was 19% (ranging from 0% to 35%). Abdominal pain, self-limiting pneumoperitoneum, bile leak, cholangitis, bleeding, perforation and intraperitoneal migration of the stent were the most common. CONCLUSIONS: Despite both safety and efficacy profile, at the moment HGS still remains a challenging procedure at every single step and must therefore be conducted by a very experienced endoscopist in interventional EUS and ERCP procedures, who is able to deal with the possible severe adverse events of this procedure. A rapid introduction in clinical practice of dedicated devices is desiderable.


Assuntos
Colestase , Icterícia , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Coledocostomia/efeitos adversos , Colestase/diagnóstico por imagem , Colestase/etiologia , Colestase/cirurgia , Drenagem , Endossonografia/métodos , Humanos , Icterícia/etiologia , Stents , Ultrassonografia de Intervenção
15.
BMC Pediatr ; 22(1): 134, 2022 03 14.
Artigo em Inglês | MEDLINE | ID: mdl-35287648

RESUMO

BACKGROUND: The purpose of this study was to evaluate the utility of endoscopic retrograde cholangiopancreatography (ERCP) in pediatric patients with pancreaticobiliary diseases. METHODS: A retrospective review was performed on patients who underwent ERCP for the treatment of biliary tract disease and detailed examination of pancreatitis at our institution from January 1999 to December 2020. RESULTS: ERCP was performed for congenital biliary dilatation (CBD) (n = 42), choledocholithiasis (n = 9), common bile duct stenosis (n = 1), and several types of pancreatitis (n = 13). The only severe complication of ERCP was common bile duct injury. Three (5.8%) of 52 biliary diseases failed to be treated by ERCP. All patients with pancreatic disease were correctly diagnosed and treated. CONCLUSIONS: Endoscopic biliary drainage with a temporary stent was adequate for symptomatic relief in CBD. Stenting of the pancreatic duct was useful for improving the angulation and drainage of the pancreatic duct. ERCP was useful for understanding the anatomy of the pancreatic duct and revealing potential treatments. Therefore, ERCP and transendoscopic therapy are sufficiently feasible in pediatric patients and should be actively introduced for the investigation and treatment of pancreaticobiliary diseases.


Assuntos
Cisto do Colédoco , Colestase , Pancreatopatias , Pancreatite , Criança , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Colestase/etiologia , Humanos , Pancreatopatias/diagnóstico por imagem , Pancreatopatias/cirurgia , Pancreatite/diagnóstico por imagem , Pancreatite/etiologia , Pancreatite/terapia , Estudos Retrospectivos
16.
Clinics (Sao Paulo) ; 77: 100017, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35294916

RESUMO

OBJECTIVES: To explore the clinical value of preferred ultrasound endoscopic guided biliary drainage in patients with extrahepatic biliary obstruction with intrahepatic biliary ectasis. METHODS: A total of 58 patients with malignant obstruction and intrahepatic bile duct expansion, including 32 males, 26 females and median age 65 (58‒81) were selected. A prospective randomized controlled study was randomized into EUS-AG and ERCP-BD, with 28 patients in EUS-AG and 30 in ERCP-BD. The efficacy of the two treatments, operation success rate, operation time, the incidence of complications, hospitalization days, cost, unimpeded stent duration, and survival time were compared. RESULTS: 1) The surgical success rate in group EUS-AG was 100%, and in group, ERCP-BD was 96.67%. There was no statistical difference in surgical success rate in the two groups (p>0.05). 2) Average operating time in EUS-AG was (23.69±11.57) min, and in ERCP-BD was (36.75±17.69) min. The difference between the two groups has statistical significance (p<0.05). 3) The clinical symptoms of successful patients were significantly relieved. Compared with the preoperative procedure, the differences in group levels had statistical significance (p<0.05); TBIL, ALP, WBC and CRP levels, no statistical significance difference in groups (p>0.05). CONCLUSION: EUS-AG operation has short time, low incidence of complications, safe, effective, and can be used as the preferred treatment plan for patients with extrahepatic biliary duct malignant obstruction associated with intrahepatic biliary duct expansion; EUS-AG operation has more unique clinical advantages for patients with altered gastrointestinal anatomy or upper gastrointestinal obstruction.


Assuntos
Ductos Biliares Extra-Hepáticos , Colestase , Idoso , Ductos Biliares Extra-Hepáticos/diagnóstico por imagem , Ductos Biliares Extra-Hepáticos/cirurgia , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Colangiopancreatografia Retrógrada Endoscópica/métodos , Colestase/diagnóstico por imagem , Colestase/etiologia , Colestase/cirurgia , Drenagem/efeitos adversos , Drenagem/métodos , Endossonografia/métodos , Feminino , Humanos , Masculino , Estudos Prospectivos , Stents/efeitos adversos , Ultrassonografia de Intervenção
17.
J Int Med Res ; 50(2): 3000605221076924, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35170356

RESUMO

OBJECTIVE: To compare the diagnostic accuracy of endoscopic retrograde cholangiopancreatography (ERCP), magnetic resonance pancreatography (MRCP) and histological examination for malignant biliary obstruction. METHODS: This retrospective study included patients admitted for biliary obstruction caused by biliary tree malignancy that underwent ERCP, MRCP and histological examination. Data were collected from the medical records. The primary endpoints were the area under the receiver operating characteristic (AUROC) curve value, sensitivity, specificity and overall diagnostic accuracy of the three procedures in terms of a final diagnosis of obstructive biliary malignancy; and the agreement between ERCP, MRCP and histological examination with the final diagnosis. RESULTS: A total of 160 patients were included in the study (85 males, 53.1%; mean ± SD age, 69.31 ± 10.96 years). Considering the final diagnosis, the performance of MRCP, ERCP and histology in assessing biliary tumours produced AUROC values of 0.88 (95% confidence interval [CI] 0.75, 0.90), 0.94 (95% CI 0.85, 0.99) and 0.80 (95% CI 0.70, 0.82), respectively. ERCP presented higher sensitivity, overall diagnostic accuracy and agreement with the final diagnosis than MRCP and histological examination. CONCLUSION: These current data suggest that invasive methods such as ERCP with biopsy remain more reliable than non-invasive methods.


Assuntos
Colestase , Neoplasias , Idoso , Idoso de 80 Anos ou mais , Colangiopancreatografia Retrógrada Endoscópica , Colangiopancreatografia por Ressonância Magnética , Colestase/diagnóstico por imagem , Colestase/etiologia , Humanos , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Sensibilidade e Especificidade
19.
Eur J Gastroenterol Hepatol ; 34(5): 478-487, 2022 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-35170533

RESUMO

Benign biliary strictures (BBS) are usually treated with endoscopic retrograde cholangiopancreatography (ERCP) with the placement of multiple plastic stents (MPS) or a covered self-expandable metal stent (CSEMS). In this meta-analysis, we compared the efficacy and safety of MPS and CSEMS in the management of BBS. We reviewed several databases from inception to 28 April 2021 to identify RCTs that compared MPS with CSEMS in the management of BBS. Our outcomes of interest were stricture resolution, stricture recurrence, adverse events, stent migration and mean number of ERCPs to achieve stricture resolution. Data were analyzed using a random-effects model. We included eight RCTs with 524 patients. We found no significant difference in the rate of stricture resolution (risk ratio, 1.02; 95% CI, 0.96-1.10), stricture recurrence (risk ratio, 1.68; 95% CI, 0.72-3.88) or adverse events (risk ratio, 1.17; 95% CI, 0.73-1.87) between groups. Mean number of ERCPs was significantly lower in the CSEMS group (SMD, -1.99; 95% CI, -3.35 to -0.64). The rate of stent migration was significantly higher in the CSEMS group. CSEMS are comparable in efficacy and safety to MPS in the management of BBS but require fewer ERCPs to achieve stricture resolution.


Assuntos
Colestase , Stents Metálicos Autoexpansíveis , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Colestase/diagnóstico por imagem , Colestase/etiologia , Colestase/cirurgia , Constrição Patológica , Humanos , Metais , Plásticos , Ensaios Clínicos Controlados Aleatórios como Assunto , Stents Metálicos Autoexpansíveis/efeitos adversos , Stents/efeitos adversos , Resultado do Tratamento
20.
J Pediatr Endocrinol Metab ; 35(5): 681-685, 2022 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-35107903

RESUMO

OBJECTIVES: Niemann-Pick disease type C (NPC) is a lysosomal storage disease due to impaired intracellular lipid trafficking caused by biallelic pathogenic variants in NPC1 or NPC2 genes. NPC is classified according to the age of onset of neurological manifestations. Cholestatic liver disease can be transient or lead to liver failure. Accompanying neurological findings can be observed at any age. In this report, an infant with a homozygous pathogenic variant in NPC1 gene whose diagnosis was eventually confirmed by specific biomarkers is described. CASE PRESENTATION: A sixteen-day-old male was admitted to hospital with prolonged jaundice. He had mild hepatosplenomegaly, conjugated hyperbilirubinemia, elevated liver transaminases, and mild hypoalbuminemia. Cholestasis resolved spontaneously and patient was readmitted due to progressive hepatosplenomegaly without any neurologic findings when he was 8 months old. Molecular investigations detected homozygous c.1123A > C (p.Thr375Pro) pathogenic variant in NPC1 gene. NPC-specific lysosomal biomarkers such as Lysosphingomyelin and Lysosphingomyelin-509 were elevated, confirming the diagnosis. CONCLUSIONS: The clinical features of NPC are highly heterogeneous, from disease severity or age of onset to disease progression. Patients presenting with transient neonatal cholestasis and should be regularly followed for neurodevelopmental status and visceromegaly. In the case of variants of unknown significance in NPC1 gene, lysosomal biomarkers play an important role when genetic analyses are inconclusive.


Assuntos
Colestase , Doenças do Recém-Nascido , Hepatopatias , Doença de Niemann-Pick Tipo C , Biomarcadores , Colestase/etiologia , Colestase/genética , Hepatomegalia/complicações , Humanos , Lactente , Recém-Nascido , Hepatopatias/complicações , Masculino , Doença de Niemann-Pick Tipo C/complicações , Doença de Niemann-Pick Tipo C/diagnóstico , Doença de Niemann-Pick Tipo C/genética , Esfingolipídeos , Esplenomegalia/complicações
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