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1.
Dig Liver Dis ; 56(2): 312-321, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37586909

RESUMO

BACKGROUND AND AIMS: Foreign body ingestion (FBI) in children requires early identification to prevent adverse outcomes and may necessitate endoscopic or surgical intervention. This study aims to develop a nomogram that identifies children who require urgent surgical or endoscopic intervention by using the patient's medical history and clinical parameters collected at admission. METHODS: This study is a retrospective review (01/2015-12/2020) of a multicenter case series of children admitted for FBI. Data from 5864 records from 24 hospitals in Italy were analyzed. Logistic regression models were used to establish the probability of requiring surgical or endoscopic intervention based on patient history and clinical characteristics. The nomogram representing the results from the multivariable model was reported to examine the propensity for surgery/endoscopy. RESULTS: The study identified a significant association between intervention and various factors, including type of foreign body (blunt: reference category, disk battery (odds ratio OR:4.89), food bolus (OR:1.88), magnets (OR:2.61), sharp-pointed (OR:1.65), unknown (OR:1.02)), pre-existing diseases or conditions (OR 3.42), drooling (OR 10.91), dysphagia (OR 5.58), vomiting (OR 3.30), retrosternal pain (OR 5.59), abdominal pain (OR 1.58), hematemesis (OR 2.82), food refusal/poor feeding (OR 2.99), and unexplained crying (OR 2.01). The multivariable regression model showed good calibration and discrimination ability, with an area under the ROC curve of 0.77. CONCLUSIONS: This study developed the first nomogram to predict the probability of the need for surgical or endoscopic intervention in children with FBI, based on the information collected at admission. The nomogram will aid clinicians in identifying children who require early intervention to prevent adverse outcomes.


Assuntos
Corpos Estranhos , Nomogramas , Criança , Humanos , Endoscopia , Sistema Digestório , Corpos Estranhos/diagnóstico , Corpos Estranhos/cirurgia , Ingestão de Alimentos , Estudos Retrospectivos
2.
Artigo em Inglês | MEDLINE | ID: mdl-38063555

RESUMO

Mentalization is a psychological process that enables individuals to understand the self and others in terms of intentional mental states. The aim of this scoping review was to provide an overview of the findings on mentalization in patients with inflammatory bowel disease (IBD) and irritable bowel syndrome (IBS). A literature search, in line with the Preferred Reporting Items for Systematic Review and Meta-analysis Protocols extension for Scoping Review guidelines, was conducted in the following bibliographic databases: PubMed, PsycINFO, and Scopus. Databases were queried using the following strings (with Boolean operators): ("mentaliz*" OR "metacogniti*" OR "theory of mind" OR "ToM" OR "reflective function*") AND ("irritable bowel syndrome" OR "IBS" OR "inflammatory bowel disease" OR "IBD"). In line with the eligibility criteria, seven articles were included. Results showed that no significant differences in metacognitive ability were found between patients in the IBD and IBS groups. This review revealed the mentalizing difficulties for patients with IBD and IBS. These results should be interpreted with caution since they are based on a few studies that used different instruments to assess mentalizing processes. Future studies are needed to clarify the role of mentalization in patients with these gastrointestinal conditions.


Assuntos
Doenças Inflamatórias Intestinais , Síndrome do Intestino Irritável , Mentalização , Humanos , Síndrome do Intestino Irritável/psicologia , Revisões Sistemáticas como Assunto , Metanálise como Assunto
3.
Minerva Pediatr (Torino) ; 75(6): 803-807, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-32241106

RESUMO

BACKGROUND: Ingestion of metallic foreign bodies (MFBs) is a frequent occurrence in children and is commonly diagnosed via X-rays. In recent years, the handheld metal detector (HMD) has been increasingly adopted by several pediatric hospitals as it is considered an effective and accurate diagnostic tool that avoids exposure to ionizing radiations. Sensitivity of HMD has been reported high (99.4%) in case of coin ingestion, but significantly lower (46%) when considering the ingestion of other types of MFBs. METHODS: We tested the effectiveness of the HMD in diagnosing ingested MFBs in children less than 14 years of age, in our Pediatric Emergency Department (PED). We prospectively evaluated all cases of MFBs ingestion that presented at the PED of our hospital from March 2015 to July 2017. RESULTS: Ninety-eight patients were included. The overall sensitivity was 63.2% (79.5% for coins, 25.5% for batteries and 56% for other objects) while the specificity was 95%. The HMD could have replaced the X-ray examination only if a MFB was detected below the xyphoid process. CONCLUSIONS: Based on our findings, a negative result of HMD is not sufficient to exclude an ingestion of MFBs. Therefore, in case of an evocative history and depending on type and size of the foreign body, a radiological investigation is still necessary.


Assuntos
Corpos Estranhos , Metais , Humanos , Criança , Raios X , Estudos Prospectivos , Radiografia , Corpos Estranhos/diagnóstico por imagem , Hospitais Pediátricos , Ingestão de Alimentos
4.
Ital J Pediatr ; 48(1): 156, 2022 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-36042474

RESUMO

BACKGROUND: Cyclic Vomiting Syndrome (CVS) is a rare functional gastrointestinal disorder, which has a considerable burden on quality of life of both children and their family. Aim of the study was to evaluate the diagnostic modalities and therapeutic approach to CVS among Italian tertiary care centers and the differences according to subspecialties, as well as to explore whether potential predictive factors associated with either a poor outcome or a response to a specific treatment. METHODS: Cross-sectional multicenter web-based survey involving members of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP). RESULTS: A total of 67 responses were received and analyzed. Most of the respondent units cared for less than 20 patients. More than half of the patients were referred after 3 to 5 episodes, and a quarter after 5 attacks. We report different diagnostic approaches among Italian clinicians, which was particularly evident when comparing gastroenterologists and neurologists. Moreover, our survey demonstrated a predilection of certain drugs during emetic phase according to specific clinic, which reflects the cultural background of physicians. CONCLUSION: In conclusion, our survey highlights poor consensus amongst clinicians in our country in the diagnosis and the management of children with CVS, raising the need for a national consensus guideline in order to standardize the practice.


Assuntos
Ciências da Nutrição Infantil , Gastroenterologia , Pesquisas sobre Atenção à Saúde , Neurologia , Pediatria , Sociedades Médicas , Vômito , Criança , Estudos Transversais , Humanos , Itália , Guias de Prática Clínica como Assunto/normas , Resultado do Tratamento
5.
Minerva Pediatr (Torino) ; 74(5): 600-608, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35511674

RESUMO

Multisystem inflammatory syndrome in children (MIS-C) associated with Severe Acute Respiratory Coronavirus 2 (SARS-CoV-2) usually develops 1-1.5 months after mild or asymptomatic COVID-19 in countries with high incidence. MIS-C has a polymorphism of clinical manifestations, which include prolonged fever, polymorphic rash, non-purulent conjunctivitis, pneumonia complicated by distress syndrome, myocarditis, coronary artery disease, toxic shock syndrome, limb edema, polyserositis, severe abdominal syndrome with diarrhea and others. Establishing this diagnosis requires significant efforts to rule out diseases of other etiology. The aim of our study was to analyze the clinical and laboratory features of children with MIS-C associated with SARS-CoV-2 and severe abdominal syndrome. Six children with MIS-C associated with SARS-CoV-2 and severe abdominal syndrome were hospitalized in Lviv Regional Children's Clinical Hospital "OHMATDYT", Ukraine, from April 2020 to September 2021. For differential diagnosis IgM, IgG to SARS-CoV-2 by ELISA, RNA to SARS-CoV-2 by PCR, bacteriological tests of blood, urine and feces were performed. Furthermore, the diagnostic work up included chest radiography, echocardiography, ultrasound of the lungs and abdominal organs. Laboratory findings revealed an increase in the normal value of inflammatory markers and high levels of IgG to SARS-CoV-2. Administration of intravenous immunoglobulin at a dose of 1 to 2 g/kg body weight per day prevented further coronary artery disease in patients and provided regression in already affected coronary arteries. At the same time, regression of abdominal syndrome was observed. Early diagnosis of MIS-C in patients with SARS-CoV-2 and severe abdominal syndrome allows to define the appropriate treatment strategy.


Assuntos
COVID-19 , Doença da Artéria Coronariana , Criança , Humanos , COVID-19/diagnóstico , SARS-CoV-2 , Ucrânia/epidemiologia , Imunoglobulinas Intravenosas , Síndrome
6.
Dig Liver Dis ; 54(5): 572-579, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35361566

RESUMO

BACKGROUND: Aim of the present report was to investigate the repercussions of COVID-19 pandemic on the procedural volumes and on the main indications of pediatric digestive endoscopy in Italy. METHODS: An online survey was distributed at the beginning of December 2020 to Italian digestive endoscopy centers. Data were collected comparing two selected time intervals: the first from 1st of February 2019 to 30th June 2019 and the second from 1st February 2020 to 30th June 2020. RESULTS: Responses to the survey came from 24 pediatric endoscopy Units. Globally, a reduction of 37.2% was observed between 2019 and 2020 periods with a significant decrease in median number of procedures (111 vs 57, p < 0.001). Both the median number of procedures performed for new diagnoses and those for follow-up purposes significantly decreased in 2020 (63 vs 36, p < 0.001 and 42 vs 21, p< 0.001, respectively). We reported a drastic reduction of procedures performed for suspected Celiac Disease and Functional Gastrointestinal Disorders (55.1% and 58.0%, respectively). Diagnostic endoscopies for suspected IBD decreased of 15.5%, whereas procedures for Mucosal Healing (MH) assessment reduced of 48.3%. CONCLUSIONS: Our study provides real-world data outlining the meaningful impact of COVID-19 on pediatric endoscopy practice in Italy.


Assuntos
COVID-19 , Criança , Endoscopia , Endoscopia Gastrointestinal , Humanos , Pandemias/prevenção & controle , SARS-CoV-2 , Inquéritos e Questionários
7.
J Pediatr Gastroenterol Nutr ; 74(6): 819-822, 2022 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-35258502

RESUMO

OBJECTIVES: The incidence of choledocolithiasis is reported to be increasing in children. As for the adult population, several different therapeutic strategies have been described, however it is unclear which of those should be considered the gold standard. There is evidence-based literature in adults that supports a combined "rendez-vous" endoscopic retrograde cholangiopancreatography-laparoscopic cholecystectomy technique. This allows management of the choledocholithiasis during the same anesthetic episode as the cholecystectomy. By contrast, there are just two case reports in children reporting this approach. The aim of this study is to report our experience with this technique in a series of children with choledocholithiasis. METHODS: All patients who underwent the "rendez-vous technique" at our institution between 2009 and 2020 were reviewed and evaluated for outcomes and complications. RESULTS: Eleven children with cholecysto-choledocholithiasis were evaluated: the procedure was successful in 10 whereas in one patient it was aborted due to technical difficulties. All patients resolved their clinical condition without major complications. CONCLUSION: To our knowledge, this is the first consistent series of "rendez-vous technique" in the pediatric population, proving its feasibility and safety.


Assuntos
Colecistectomia Laparoscópica , Coledocolitíase , Adulto , Criança , Colangiopancreatografia Retrógrada Endoscópica/métodos , Colecistectomia Laparoscópica/métodos , Coledocolitíase/diagnóstico por imagem , Coledocolitíase/cirurgia , Humanos
8.
Artigo em Inglês | MEDLINE | ID: mdl-33871250

RESUMO

Bowel ultrasound (US) is a low cost, non-invasive, bed side practice and a reproducible procedure that represents a high yield tool in clinical practice and in the diagnostic workup of a consistent group of acute and chronic gastrointestinal (GI) tract disease. Moreover, in case of GI diseases of neonatal and pediatric age, it allows an easier evaluation due to the small body size and scarce presence of fat tissue in the abdominal wall and peritoneal cavity and gas content. No particular preparation of the patient is needed, nevertheless a 3 to 5 hour fasting state improves the quality of the examination. The exam focuses on wall thickness and stratification, lumen content, distensibility and compressibility, presence of peristalsis of explorable segment of the GI tract and includes the investigation of mesentery, perivisceral tissues and nodes features. Color doppler flowmetry admits a qualitative evaluation of GI wall and mesentery vascularization. Healthy GI wall appears at a US evaluation as a multilayered structure in which hyperechoic and hypoechoic layers alternate sequentially. In this article we provide a quickly available overview on findings, signs and applications of US in major GI pediatric diseases.

9.
Eur J Pediatr ; 180(8): 2429-2434, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33772337

RESUMO

Human endogenous retroviruses (HERVs) represent 8% of our genome. Although no longer infectious, they can regulate transcription of adjacent cellular genes, produce retroviral RNAs, and encode viral proteins that can modulate both innate and adaptive immune responses. Based on this, HERVs have been studied and proposed as contributing factors in various autoimmune disorders. Celiac disease (CD) is considered an autoimmune disease, but HERV expression has not been studied in celiac patients. The aim of this study is to assess the transcription levels of pol genes of HERV-H, -K, and -W and of their TRIM28 repressor in WBCs from celiac children and age-matched control subjects. A PCR real-time TaqMan amplification assay was used to evaluate HERV and TRIM28 transcripts with normalization of the results to glyceraldehyde-3-phosphate dehydrogenase. The RNA levels of pol genes of the three HERV families were significantly higher in WBCs from 38 celiac patients than from 51 control subjects. TRIM28 transcription was comparable between the two study populations.Conclusion: Present results show, for the first time, that pol genes of HERV-H, -K, and -W are overexpressed in patients with CD. Given their proinflammatory and autoimmune properties, this suggests that HERVs may contribute to the development of CD in susceptible individuals. What is Known: • Based on this, HERVs have been studied and proposed as contributing factors in various autoimmune disorders. What is New: • Present results show, for the first time, that pol genes of HERV-H, -K, and -W are overexpressed in patients with CD.


Assuntos
Doenças Autoimunes , Doença Celíaca , Retrovirus Endógenos , Doença Celíaca/genética , Criança , Retrovirus Endógenos/genética , Humanos , Leucócitos
10.
J Pediatr Gastroenterol Nutr ; 72(4): 597-602, 2021 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-33399328

RESUMO

OBJECTIVES: The aims of the study was to expand the pediatric experience on hepatitis-B virus (HBV) reactivation, a known complication in patients with hematologic malignancies or on immunosuppression. METHODS: Retrospective appraisal of HBV therapy/prophylaxis in immunocompromised children, studied from April 2006 to March 2020. RESULTS: Eighteen HBV-positive patients, 5 girls, median age 11.1 (4.1--17.9) years were included. Seventeen of 18 were immunosuppressed at HBV-infection diagnosis. Seventeen were at high risk of reactivation, 1 at moderate risk. Five of 18 had acute hepatitis B as first infection or reactivation, 6 had HBeAg-positive infection, 1 an HBeAg-negative infection and 6 HBsAg-negative infection. Median follow-up was 2.7 (0.7--12.5) years. No HBV-related mortality was observed. Prophylaxis had to be repeated in 1. Lamivudine was used in 6/12 viremic patients and HBV-DNA negativization obtained in 2/6 (33%). Tenofovir-DF was used in 2/12 and entecavir in 4/12: 100% attained HBV-DNA negativization. Therapy had to be switched from tenofovir-DF to entecavir in 1 patient because of renal impairment. Virological breakthroughs were observed in 1 lamivudine-treated patient, leading to a hepatitis flare; 1 patient on entecavir had a hepatitis flare at immunoreconstitution. Mortality was 33% in the HBsAg-positive group. Seven prophylactic treatments were administered to 6 patients with HBsAg-negative infection: tenofovir-DF in 2 HBV-DNA-positive, lamivudine in 5 HBV-DNA-negative, without reverse HBsAg seroconversion, morbidity or mortality. CONCLUSIONS: There is a residual risk of acute hepatitis B in immunocompromised children, mortality rate was substantial, potentially related to the delays in commencing chemotherapy caused by liver dysfunction. Tenofovir-DF or entecavir are the drugs of choice for HBV treatment in immunocompromised children.


Assuntos
Hepatite B Crônica , Hepatite B , Infecções por Herpesviridae , Antivirais/efeitos adversos , Criança , Feminino , Hepatite B/tratamento farmacológico , Hepatite B/prevenção & controle , Antígenos de Superfície da Hepatite B/uso terapêutico , Vírus da Hepatite B , Humanos , Lamivudina/farmacologia , Lamivudina/uso terapêutico , Estudos Retrospectivos , Exacerbação dos Sintomas , Ativação Viral
12.
JPGN Rep ; 1(2): e018, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33294883

RESUMO

In February 2020, the COVID-19 pandemic overwhelmed Italy. We retrospectively reviewed all attendances and emergency (A&E) admissions due to foreign-body ingestions (FBIs) to an Italian pediatric referral hospital, from February 24 to April 24, 2020, COVID-19 lockdown and compared them with the same period in the previous 4 years. A total of 101 cases were recorded. Mean age of admission was 4.6 years. Groups did not differ for gender (P = 0.4) or age (P = 0.3). Among FBIs ingestions, 24.0% occurred in children with <2 years of age and 47.5% in children from 2 to 6 years of age. In the 2020 study period, 9 patients were seen for batteries ingestion compared with a median value of one among compared periods. The rates of batteries ingestions increased significantly over the observational period (P < 0.001). We report a dramatic increase in batteries ingestions in children, a potentially fatal event, during the COVID-19 pandemic lockdown.

13.
Dig Liver Dis ; 52(11): 1266-1281, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32782094

RESUMO

Foreign body and caustic ingestions in children are usually the most common clinical challenges for emergency physicians, general pediatricians and pediatric gastroenterologists. Management of these conditions often requires different levels of expertise and competence. Endoscopy is often necessary but there is a high risk of misusing this tool with incorrect timing and indications. The imprecise clinical history frequently leaves clinicians uncertain about timing and nature of the ingestion. Few clinical guidelines regarding management of these ingestions in children have been published, none of which from the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP). An expert panel of Italian endoscopists was convened by the SIGENP Endoscopy Working Group to produce the present article that outlines practical clinical approaches to the pediatric patient with a variety of foreign body and caustic ingestions. The Italian Association of Hospital Gastroenterologists and Endoscopists (AIGO) has also endorsed the project since many adult endoscopists usually manage children with these conditions. Differently from the other published guidelines, the proposed one focuses on the role of the endoscopists (regardless of whether they are adult or pediatric gastroenterologists) in the diagnostic process of children with foreign body and caustic ingestions.


Assuntos
Queimaduras Químicas/terapia , Cáusticos/toxicidade , Sistema Digestório , Corpos Estranhos/terapia , Gastroenteropatias/terapia , Queimaduras Químicas/diagnóstico , Criança , Ingestão de Alimentos , Endoscopia , Corpos Estranhos/diagnóstico , Gastroenteropatias/diagnóstico , Humanos , Itália , Pediatria , Sociedades Médicas
14.
Minerva Pediatr ; 72(6): 514-522, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32731735

RESUMO

Calprotectin is a calcium and zinc-binding protein, formed by a hetero complex of S100A8 and S100A9 proteins, which belong to the S-100 protein family consisting in more than 20 different proteins with a tissue-specific expression pattern. This protein is secreted extracellularly from stimulated neutrophils or released by cell disruption or death. The presence of calprotectin in feces quantitatively relates to neutrophil migration toward the gastrointestinal (GI) tract; thus, it represents a useful marker of intestinal inflammation. Fecal calprotectin (FC) has been proven largely useful for determining the inflammatory origin of GI symptoms differentiating between organic and non-organic diseases. Indeed, increased FC levels are also seen in gastroenteritis, microscopic colitis, polyps, malignancies and cystic fibrosis. To date, there are many evidences regarding usefulness in the detection of fecal calprotectin for the management of gastrointestinal disorders, both in children and adults but, especially in the pediatric population, still clear indications for its use are lacking. Its incorporation in primary care reduces the risk of missing an organic disease and facilitates the indication for expensive and invasive investigations as colonoscopy. We herein review and discuss the last evidence on the usefulness of FC in children, with its current indications and future prospective.


Assuntos
Fezes/química , Gastroenteropatias/diagnóstico , Complexo Antígeno L1 Leucocitário/análise , Adolescente , Fatores Etários , Biomarcadores/análise , Movimento Celular , Criança , Pré-Escolar , Enterite/diagnóstico , Enterite/metabolismo , Gastroenteropatias/metabolismo , Humanos , Lactente , Neutrófilos/fisiologia , Valores de Referência
17.
J Laparoendosc Adv Surg Tech A ; 30(2): 216-220, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31742485

RESUMO

Background: Gastrostomy tube placement (G-Tube) is a frequently offered procedure in children with feeding difficulties. Various procedures exist for G-Tube, with the pull technique more commonly used for a percutaneous endoscopic gastrostomy (PEG) in children, considered by many to be the safer approach. Major complications requiring reoperation range from 3% to 5%, depending on the study. In our center, PEG placement is performed by gastrointestinal endoscopists through the pull technique. In the last 5 years, there were 150 procedures, with 15 minor and 3 major complications. We will describe the last 3 cases, plus a fourth PEG placement at another center. Patients and Methods: Patients ranged from 2 to 10 years (median age: 4.5 years). Median weight was 10.7 kg (range: 7-18 kg). Patients were neurologically impaired children, except one with severe nephropathy. Results: Laparoscopic repair with a 3-trocar technique was effective, when the patient's general condition allowed for it. After fistula repair, a new gastrostomy was placed; this step can be performed endoscopically under laparoscopic control (or can be performed completely laparoscopically). Conclusions: In 4 patients, we faced unusual PEG placement complications, due to colon interposition during blind gastric puncture. In those with anatomical deformities or previous surgery, or dealing with toddlers (under 10 kg), we suggest laparoscopic-assisted PEG, or a full laparoscopic gastrostomy to avoid the risk of a major complication.


Assuntos
Fístula Cutânea/cirurgia , Fístula Gástrica/cirurgia , Gastrostomia/efeitos adversos , Laparoscopia/métodos , Criança , Pré-Escolar , Fístula Cutânea/etiologia , Endoscopia Gastrointestinal , Nutrição Enteral , Feminino , Fístula Gástrica/etiologia , Humanos , Masculino , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Reoperação
18.
Ital J Pediatr ; 45(1): 27, 2019 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-30791938

RESUMO

BACKGROUND: paucity of interlobular bile ducts is an important observation at liver biopsy in the diagnostic work-up of neonatal cholestasis. To date, other than in the Alagille syndrome, syndromic paucity of interlobular bile ducts has been documented in four cholestatic neonates with HFN1ß mutations. A syndromic phenotype, known as renal cysts and diabetes syndrome (RCAD), has been identified. This is usually characterized by a wide clinical spectrum, including renal cysts, maturity-onset diabetes of the young, exocrine pancreatic insufficiency, urogenital abnormalities and a not well established liver involvement. Herein we report a novel case of paucity of interlobular bile ducts due to an HFN1ß defect. CASE PRESENTATION: A 5-week-old boy was admitted to our department for cholestatic jaundice with increased gamma-glutamyl transpeptidase and an unremarkable clinical examination. He had been delivered by Caesarian section at 38 weeks' gestation from unrelated parents, with a birth weight of 2600 g (3rd percentile). Screening for cholestatic diseases, including Alagille syndrome, was negative except for a minor pulmonary artery stenosis at echocardiography and a doubt of a thoracic butterfly hemivertebra. The finding of hyperechogenic kidneys with multiple bilateral cortical cysts at ultrasound examination, associated with moderately impaired renal function with proteinuria, polyuria and metabolic acidosis, was suggestive of ciliopathy. A liver biopsy was performed revealing paucity of interlobular bile ducts, thus the diagnosis of Alagille syndrome was reconsidered. Although genetic tests for liver cholestatic diseases were performed with negative results for Alagille syndrome (JAG1 and NOTCH2), a de-novo missense mutation of HNF1ß gene was detected. At 18 months of age our patient has persistent cholestasis and his itching is not under satisfactory control. CONCLUSIONS: Alagille syndrome may not be the only syndrome determining paucity of interlobular bile ducts in neonates presenting with cholestasis and renal impairment, especially in small for gestational age newborns. We suggest that HNF1ß deficiency should also be ruled out, taking into consideration HNF1ß mutations, together with Alagille syndrome, in next generation sequencing strategies in neonates with cholestasis, renal impairment and/or paucity of interlobular bile ducts at liver biopsy.


Assuntos
Síndrome de Alagille/diagnóstico , Colestase Intra-Hepática/etiologia , Fator 1-beta Nuclear de Hepatócito/deficiência , Síndrome de Alagille/complicações , Humanos , Lactente , Masculino
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