Coeliac disease and gastrointestinal symptom screening in adult first-degree relatives.

BACKGROUND AND AIM: The first-degree relatives (FDRs) of patients with coeliac disease are the main risk group for disease development. The study aims to evaluate the screening strategy in FDRs with negative coeliac serology based on human leukocyte antigen (HLA) genotyping, followed by duodenal biopsy, and to analyze the prevalence of gastrointestinal symptoms and the influence of gluten intake. METHODS: Adult FDRs with negative coeliac serology were invited to participate (n = 205), and a total of 139 completed the study protocol. HLA genotyping, transglutaminase antibody assessment, and duodenal biopsy were performed. Symptomatology was assessed using questionnaires during the various phases of dietary modification (baseline diet, gluten-free diet, and gluten overload). RESULTS: The study included 139 participants (mean age, 42 years; 53.2% women). HLA-DQ2/8 was positive in 78.4% of the participants (homozygous, 15.1%; heterozygous, 63.3%). Histopathological alterations were noted in 37.1% of participants who underwent duodenal biopsy (Marsh I, 32.7%; Marsh IIIa, 4.4%). At baseline, symptoms were observed in 45.7% of the participants, and the proportion decreased to 24.5% after the gluten-free diet (P < 0.001). Symptoms were not associated with the presence of histological alterations or genetic risk. However, younger age (odds ratio [OR] = 0.91), female sex (OR = 2.9), and the presence of autoimmune disorders (OR = 2.8) were independently associated with a significant symptom response to the gluten-free diet. CONCLUSIONS: Duodenal lymphocytosis and atrophy are frequently noted in FDRs, despite negative serological markers. In addition, gastrointestinal symptoms are commonly present and associated with gluten intake regardless of the histological pathology.

[Analysis of bone mineral density in children with celiac disease. Densitometry indications and effect of gluten-free diet]. / Densidad mineral ósea en niños celiacos. Indicaciones de estudio y efecto de la exclusión del gluten de la dieta.

INTRODUCTION: one of the main extradigestive manifestations of celiac disease is the decrease in bone mineral density (BMD). Bone densitometry performed with DXA is the method of choice for BMD assessment. Indications for its use in celiac children are controversial. OBJECTIVE: analyzing BMD and various clinical-analytical variables in celiac children when diagnosed and after a gluten-free diet. Define a profile of patients who are more likely to present BMD involvement based on several individual characteristics, to perform DXA indications. METHODS: study performed in 24 celiac children (12 boys) (age: 8.7 ± 3.3 years). Their BMD was determined at diagnosis and after a gluten-free diet using DXA. The BMD was compared in each patient in the two moments of the study and at the moment of diagnosis between groups of patients stratified according to severity criteria dependent on clinical, analytical and histological variables. RESULTS: BMD was normal in all patients studied at the time of diagnosis and after treatment, with no difference between the two moments of the analysis. Children who presented symptomatology when diagnosed with celiac disease had lower spine and femur BMD than asymptomatic ones. The calcemia had an inverse correlation with the time of evolution of the disease before its diagnosis. CONCLUSIONS: in general, in our setting, the study of bone mineralization in celiac children is not indicated, unless there has been a prolonged clinical course before diagnosis.

[Association between Crohn's disease and primary sclerosing cholangitis in a 10 year old girl]. / Asociación entre enfermedad de Crohn y colangitis esclerosante primaria en una niña de 10 años.

A 10 year old girl with diarrhea, abdominal pain, weight loss and fever of one month and a half of evolution. Analytical and sonographic findings raised the possibility of inflammatory bowel disease. Endoscopy and histology showed findings consistent with Crohn's disease. Treatment was initiated with mesalazine and exclusive enteral nutrition. Later corticosteroid treatment, immunosuppressive drugs and ursodeoxycholic acid were added due to cholestasis and persistent hypergammaglobulinemia. Magnetic resonance cholangiography and liver biopsy confirmed the diagnosis of concomitant primary sclerosing cholangitis. The association between Crohn's disease and primary sclerosing cholangitis is rare, predominantly in males between 20 and 40 years old and it presents a great clinical variability. The confirmation of the diagnosis requires magnetic resonance cholangiography or endoscopic retrograde cholangiopancreatography. The prognosis is poor and there is no treatment to slow the progression of the disease.

Niña de 10 años con diarrea, abdominalgia, pérdida de peso y febrícula de un mes y medio de evolución. Los hallazgos analíticos y ecográficos hicieron sospechar una enfermedad inflamatoria intestinal. La endoscopía y la histología mostraron hallazgos compatibles con la enfermedad de Crohn. Se inició un tratamiento con mesalazina y nutrición enteral exclusiva, y se anadieron corticoides, inmunosupresores y ácido ursodesoxicólico por la persistencia de colestasis e hipergammaglobulinemia. La colangiorresonancia y la biopsia hepática confirmaron el diagnóstico de colangitis esclerosante primaria concomitante. La asociación entre la enfermedad de Crohn y la colangitis esclerosante primaria es muy poco frecuente; predomina en varones de entre los 20 y los 40 años de edad; y presenta una gran variabilidad clínica. El diagnóstico de confirmación requiere la realización de una colangiorresonancia o colangiopancreatografía retrógrada endoscópica. El pronóstico es malo y no existe ningún tratamiento capaz de frenar la progresión de la enfermedad.

[Necrotizing pancreatitis in a 11 year-old boy. Case report]. / Pancreatitis necrohemorrágica en un niño de 11 años. Caso clínico.

Acute pancreatitis is an emerging problem with an incidence between 3.6 and 13.2 cases/100,000 children. However, necrotizing pancreatitis (necrosis greater than 30% of the pancreas and/or greater than 3 cm in an area of the pancreas) is a rare condition (<1% of acute pancreatitis), with a presentation similar to not complicated pancreatitis cases and with high morbidity and mortality. Computed tomography allows an assessment of the severity of the disease and the risk of complications (Balthazar Score). Not complicated pancreatitis cases have a favorable outcome, but necrotizing pancreatitis cases require intensive medical treatment and sometimes surgical treatment. We report the case of an 11 year-old boy with clinical presentation compatible with acute pancreatitis and confirmed by abdominal ultrasonography. Due to worsening of laboratory test, an abdominal computed tomography was performed showing a necrotizing pancreatitis and large pseudocysts. Close monitoring and a conservative approach was adopted, with clinical and analytical improvement. After one year follow-up, the patient is asymptomatic, normal ancillary tests and no evidence of pancreatic pseudocyst. The pediatric necrohaemorragic pancreatitis is an uncommon and potentially severe entity; we must keep this complication in mind for an adequate differential diagnosis of acute abdomen.

Asociación entre enfermedad de Crohn y colangitis esclerosante primaria en una niña de 10 años / Association between Crohn's disease and primary sclerosing cholangitis in a 10 year old girl

Niña de 10 años con diarrea, abdominalgia, pérdida de peso y febrícula de un mes y medio de evolución. Los hallazgos analíticos y ecográficos hicieron sospechar una enfermedad inflamatoria intestinal. La endoscopía y la histología mostraron hallazgos compatibles con la enfermedad de Crohn. Se inició un tratamiento con mesalazina y nutrición enteral exclusiva, y se anadieron corticoides, inmunosupresores y ácido ursodesoxicólico por la persistencia de colestasis e hipergammaglobulinemia. La colangiorresonancia y la biopsia hepática confirmaron el diagnóstico de colangitis esclerosante primaria concomitante. La asociación entre la enfermedad de Crohn y la colangitis esclerosante primaria es muy poco frecuente; predomina en varones de entre los 20 y los 40 años de edad; y presenta una gran variabilidad clínica. El diagnóstico de confirmación requiere la realización de una colangiorresonancia o colangiopancreatografía retrógrada endoscópica. El pronóstico es malo y no existe ningún tratamiento capaz de frenar la progresión de la enfermedad.

A 10 year old girl with diarrhea, abdominal pain, weight loss and fever of one month and a half of evolution. Analytical and sonographic findings raised the possibility of inflammatory bowel disease. Endoscopy and histology showed findings consistent with Crohn's disease. Treatment was initiated with mesalazine and exclusive enteral nutrition. Later corticosteroid treatment, immunosuppressive drugs and ursodeoxycholic acid were added due to cholestasis and persistent hypergammaglobulinemia. Magnetic resonance cholangiography and liver biopsy confirmed the diagnosis of concomitant primary sclerosing cholangitis. The association between Crohn's disease and primary sclerosing cholangitis is rare, predominantly in males between 20 and 40 years old and it presents a great clinical variability. The confirmation of the diagnosis requires magnetic resonance cholangiography or endoscopic retrograde cholangiopancreatography. The prognosis is poor and there is no treatment to slow the progression of the disease.

Pancreatitis necrohemorrágica en un niño de 11 años: Caso clínico / Necrotizing pancreatitis in a 11 year-old boy: Case report

La pancreatitis aguda es un problema emergente, con una incidencia de 3,6-13,2 casos/100000 niños. Sin embargo, la pancreatitis necrotizante (necrosis mayor del 30% del páncreas y/o mayor de 3 cm de un área del páncreas) es un proceso poco frecuente (< 1% de las pancreatitis agudas), con presentación similar a los casos de pancreatitis no complicada y con una elevada morbimortalidad. La tomografía axial computada permite valorar, en estos casos, la gravedad del cuadro y el riesgo de complicaciones (puntaje de Balthazar). Las pancreatitis no complicadas tienen una evolución favorable, pero los casos de pancreatitis necrotizante precisan tratamiento médico intensivo y, en ocasiones, cirugía. Presentamos el caso de un varón de 11 años con clínica compatible con una pancreatitis aguda confirmada mediante ecografía abdominal. Ante el empeoramiento analítico, se realizó una tomografía axial computada, que mostró una pancreatitis necrotizante y pseudoquistes de gran tamaño. Se decidió la monitorización estrecha y la adopción de una actitud conservadora, con mejoría clínico-analítica. Después de un año de seguimiento, el paciente permanece asintomático y han desaparecido los pseudoquistes. La pancreatitis necrohemorrágica es una entidad infrecuente en la edad pediátrica pero potencialmente grave que debemos tener presente en el diagnóstico diferencial de un abdomen agudo.

Acute pancreatitis is an emerging problem with an incidence between 3.6 and 13.2 cases/100,000 children. However, necrotizing pancreatitis (necrosis greater than 30% of the pancreas and/or greater than 3 cm in an area of the pancreas) is a rare condition (< 1% of acute pancreatitis), with a presentation similar to not complicated pancreatitis cases and with high morbidity and mortality. Computed tomography allows an assessment of the severity of the disease and the risk of complications (Balthazar Score). Not complicated pancreatitis cases have a favorable outcome, but necrotizing pancreatitis cases require intensive medical treatment and sometimes surgical treatment. We report the case of an 11 year-old boy with clinical presentation compatible with acute pancreatitis and confirmed by abdominal ultrasonography. Due to worsening of laboratory test, an abdominal computed tomography was performed showing a necrotizing pancreatitis and large pseudocysts. Close monitoring and a conservative approach was adopted, with clinical and analytical improvement. After one year follow-up, the patient is asymptomatic, normal ancillary tests and no evidence of pancreatic pseudocyst. The pediatric necrohaemorragic pancreatitis is an uncommon and potentially severe entity; we must keep this complication in mind for an adequate differential diagnosis of acute abdomen.