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OBJECTIVES: We aimed to evaluate the clinical response to cholestyramine in patients with functional chronic diarrhea and a high clinical suspicion of bile-acid diarrhea (BAD) investigated with 75-selenium homocholic acid taurine (SeHCAT) test. METHODS: Adult patients attending our outpatient clinic between January and December 2021 for chronic diarrhea with suspicion of BAD were proposed SeHCAT testing and a therapeutic trial of cholestyramine 4-8 g daily. Clinical response to cholestyramine was evaluated at 1, 3, 6, and 12 months. Clinical and demographic data were analyzed according to SeHCAT test results. RESULTS: Among the 50 patients with chronic diarrhea and clinical suspicion of BAD, 13 (26.0%) refused either SeHCAT testing or cholestyramine therapy. Finally, 37 patients (31 females, age 44 ± 14 years) agreed to undergo SeHCAT and were started on cholestyramine (median follow-up 14 months [interquartile range 6-16 months]). Initial response to cholestyramine was similar in patients with positive and negative SeHCAT test results, but improved over time in those with a positive test result. Long-term response (100% vs 65.2%, P = 0.02) and necessity of maintenance therapy for symptom control were more common in those with positive SeHCAT test result (71.4% vs 26.1%, P = 0.02). However, response to cholestyramine was also frequent in patients with a negative test result. CONCLUSIONS: The SeHCAT test accurately identifies patients with BAD who benefit from long-term cholestyramine treatment. Nevertheless, cholestyramine may be also effective in patients with chronic diarrhea but negative SeHCAT test result.
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Ácidos y Sales Biliares , Resina de Colestiramina , Diarrea , Humanos , Femenino , Resina de Colestiramina/uso terapéutico , Diarrea/tratamiento farmacológico , Masculino , Adulto , Persona de Mediana Edad , Estudios Prospectivos , Enfermedad Crónica , Ácidos y Sales Biliares/metabolismo , Ácido Taurocólico/análogos & derivados , Síndromes de Malabsorción/diagnóstico , Síndromes de Malabsorción/tratamiento farmacológico , Resultado del Tratamiento , Radioisótopos de SelenioRESUMEN
PURPOSE OF REVIEW: Malabsorption and malnutrition are common gastrointestinal manifestations clinicians face, requiring diagnostic workup for effective diagnosis and management of the underlying cause. This review discusses recent advances in diagnostic approaches to malabsorption and maldigestion of macronutrients - lipids, proteins, and carbohydrates. We highlight underrecognized causes, available testing modalities, and ongoing diagnostic unmet needs. RECENT FINDINGS: Innovations in the diagnostic landscape are enhancing our understanding of malabsorption syndromes. Stool collection and handling is uncomfortable and commonly avoided. The objective quantification of stool lipids, bile acids, and gut enzymes is therefore underused in the diagnosis and management of common disorders such as exocrine pancreatic insufficiency, bile acid diarrhea, protein-losing enteropathy, and more. We review the recent advancements in spot quantification of stool fat and bile acid content, endoscopic imaging techniques such as endocytoscopy, confocal laser endomicroscopy, and optical coherence tomography and the future place in clinical practice. SUMMARY: Malabsorption and maldigestion represent significant challenges in clinical nutrition and gastroenterology. Through the integration of advanced diagnostic techniques, clinicians will be better equipped to tailor therapy and monitor treatment response, ultimately improving patient health outcomes. This review underscores the critical role of innovative diagnostic tools in accurately detecting and effectively managing gastrointestinal disorders linked to nutritional status.
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Síndromes de Malabsorción , Desnutrición , Estado Nutricional , Humanos , Síndromes de Malabsorción/diagnóstico , Desnutrición/diagnóstico , Heces , Ácidos y Sales Biliares/metabolismo , Tracto GastrointestinalRESUMEN
We present the case of 11 years of severe malabsorption, muscular atrophy, seizures, and immunodeficiency resolved after proximal intercessory prayer (PIP). A male infant suffered from severe abdominal pain and impaired development with the introduction of solid food at age five months. The patient had previously appeared healthy, having been born to term and breastfed. Neocate and total parenteral nutrition (TPN) were prescribed, and the former was removed due to abdominal pain and diarrhea. Ultimately, the patient became completely dependent on TPN. It was concluded that he suffered from chronic, idiopathic, severe malabsorption. Development of neutropenia, hypogamma-globulinemia, and hypotonia was recorded. Medical records document atrophy and progressive deterioration of muscular symptoms. At five years of age, frontal lobe epilepsy was detected. Over the course of the disease, several genetic tests were performed. Doctors tried unsuccessfully to diagnose an underlying condition, with various mitochondriopathies and Shwachman-Diamond syndrome suggested as possible causes, but no prognosis of recovery was given. Eleven years following the initial presentation of symptoms, proximal intercessory prayer (PIP) was administered in a single session. The patient reported no unusual sensations during prayer. However, oral feedings were immediately tolerated without discomfort from that time onward. Post-PIP medical records indicate discontinuation of TPN, seizures, and seizure medications. Progressive improvement in the hematological disorders, BMI, and muscular symptoms was also observed. The present case report describes a novel association between PIP and the lasting resolution of multiple symptoms likely related to a genetic disorder. The results inform ongoing discussions about faith-based practices in health care and suggest the need for additional studies of PIP on health outcomes.
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Síndromes de Malabsorción , Humanos , Masculino , Síndromes de Malabsorción/terapia , Síndromes de Malabsorción/fisiopatología , Atrofia Muscular , Convulsiones , Niño , ReligiónRESUMEN
The aetiology of failure to thrive (FTT) in children is broad, of which some conditions are extremely rare. It is important to consider these rarer conditions, especially in the setting of other concerning signs/symptoms or when there is no improvement with conventional treatment. In this case report we highlight such a rare condition-chylomicron retention disease (CRD) as an aetiology of FTT. CRD often presents with non-specific symptoms, resulting in delayed diagnosis which is established by genetic workup and histology from small intestinal biopsies. Despite being rare, CRD needs to be considered as one of the differential diagnoses after ruling out the more common causes of FTT.
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Insuficiencia de Crecimiento , Síndromes de Malabsorción , Humanos , Insuficiencia de Crecimiento/etiología , Síndromes de Malabsorción/diagnóstico , Síndromes de Malabsorción/complicaciones , Diagnóstico Diferencial , Hipobetalipoproteinemias/genética , Hipobetalipoproteinemias/diagnóstico , Hipobetalipoproteinemias/complicaciones , Masculino , Lactante , Femenino , Intestino Delgado/patología , BiopsiaRESUMEN
The study of the genetic determinants of the disaccharidase activity opens up new prospects for improving diagnostics and choosing medical tactics in gastroenterology. The aim of the study was to systematize the data on the role of the sucrase-isomaltase gene (SI) in regulating sucrose metabolism and the contribution of SI mutations to the prevalence of sucrose malabsorption disorders (sucrase-isomaltase deficiency, SID) and certain forms of enterological pathology in different population groups. Material and methods. A review of the peer-reviewed scientific literature, mainly in the PubMed database (https://pubmed.ncbi.nlm.nih.gov) and eLibrary (https://elibrary.ru), was conducted using key words: carbohydrate malabsorption, sucrase, sucrase-isomaltase deficiency, sucrase-isomaltase SI gene. The search depth was not specified, but particular attention was paid to recent publications. The gnomAD database (https://www.ncbi.nlm. nih.gov/snp/rs781470490) was also used. Results. According to the review results, 37 out of 150 known SI gene mutations have been confirmed to contribute to reduced sucrase activity or restricted sucrase production. The prevalence of point mutations in the SI gene is estimated at 0.0006%, but carrier rates of the SI delAG deletion (rs781470490), manifested as homozygosity in SID, are very high (5-21%) in indigenous populations of Arctic regions in East Asia and America. Medicalgenetic research methods improve the accuracy of differential diagnosis of primary and secondary SID and other forms of disaccharide and polysaccharide malabsorption. The formation of databases on the prevalence of genetic determinants of sucrase-isomaltase insufficiency is a promising way to refine the epidemiology of SID. There is an increased (0.2-2.3%) risk of clinical manifestations of SID in homozygous carriers of the SI delAG mutation in the Chukotka, Kamchatka, and Northern Priochotye populations. Verification of reports on a less pronounced tendency to lipid metabolism disorders in SI delAG carriers compared with the control group is recommended. Conclusion. Manifestations of mutant SI variants in the phenotype are associated with the presence of accompanying carbohydrate malabsorption variants and specific gut microbiota. The SI 15Phe variant (rs9290264) may contribute to the development of irritable bowel syndrome.
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Errores Innatos del Metabolismo de los Carbohidratos , Complejo Sacarasa-Isomaltasa , Humanos , Errores Innatos del Metabolismo de los Carbohidratos/genética , Complejo Sacarasa-Isomaltasa/genética , Complejo Sacarasa-Isomaltasa/deficiencia , Mutación , Sacarosa/metabolismo , Síndromes de Malabsorción/genéticaRESUMEN
Magnet ingestion in children can lead to serious complications, both acutely and chronically. This case report discusses the treatment approach for a case involving multiple magnet ingestions, which resulted in a jejuno-colonic fistula, segmental intestinal volvulus, hepa-tosteatosis, and renal calculus detected at a late stage. Additionally, we conducted a literature review to explore the characteristics of intestinal fistulas caused by magnet ingestion. A six-year-old girl was admitted to the Pediatric Gastroenterology Department pre-senting with intermittent abdominal pain, vomiting, and diarrhea persisting for two years. Initial differential diagnoses included celiac disease, cystic fibrosis, inflammatory bowel disease, and tuberculosis, yet the etiology remained elusive. The Pediatric Surgery team was consulted after a jejuno-colonic fistula was suspected based on magnetic resonance imaging findings. The physical examination revealed no signs of acute abdomen but showed mild abdominal distension. Subsequent upper gastrointestinal series and contrast enema graphy confirmed a jejuno-colonic fistula and segmental volvulus. The family later reported that the child had swallowed a magnet two years prior, and medical follow-up had stopped after the spontaneous expulsion of the magnets within one to two weeks. Surgical intervention was necessary to correct the volvulus and repair the large jejuno-colonic fistula. To identify relevant studies, we conducted a detailed literature search on magnet ingestion and gastrointestinal fistulas according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. We identified 44 articles encompassing 55 cases where symptoms did not manifest in the acute phase and acute abdomen was not observed. In 29 cases, the time of magnet ingestion was unknown. Among the 26 cases with a known ingestion time, the average duration until fistula detection was 22.8 days (range: 1-90 days). Fistula repairs were performed via laparotomy in 47 cases.
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Fístula Intestinal , Humanos , Femenino , Fístula Intestinal/etiología , Fístula Intestinal/cirugía , Niño , Cuerpos Extraños/complicaciones , Cuerpos Extraños/cirugía , Cuerpos Extraños/diagnóstico por imagen , Imanes/efectos adversos , Síndromes de Malabsorción/etiología , Síndromes de Malabsorción/diagnóstico , Enfermedades del Yeyuno/etiología , Enfermedades del Yeyuno/cirugía , Enfermedades del Yeyuno/diagnóstico , Vólvulo Intestinal/cirugía , Vólvulo Intestinal/etiología , Vólvulo Intestinal/diagnóstico , Enfermedades del Colon/etiología , Enfermedades del Colon/cirugíaRESUMEN
Objective: To summarize the genotype and clinical characteristics of chylomicron retention disease (CMRD) caused by secretion associated Ras related GTPase 1B (SAR1B) gene variations. Methods: Clinical data and genetic testing results of 2 children with CMRD treated at Children's Hospital of Fudan University and Jiangxi Provincial Children's Hospital from May 2022 to July 2023 were summarized. To provide an overview of the clinical and genetic characteristics of CMRD caused by SAR1B gene variations, all of the literature was searched and reviewed from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, China VIP database, China Biology Medicine disc and PubMed database (up to January 2024) with "chylomicron retention disease" "Anderson disease" or "Anderson syndrome" as the search terms. All relevant literatures were reviewed to summarize the clinical and genetic features of CMRD caused by SAR1B gene variations. Results: One 11-year-old boy and one 4-month-old girl with CMRD. Both patients had lipid malabsorption, failure to thrive, decreased cholesterol, elevated transaminase and creatine kinase, and Vitamin E deficiency, with homozygous variations (c.224A>G) and compound heterozygous variations (c.224A>G and c.554G>T) in SAR1B gene, respectively. Case 1 was followed up for over a month, and he still occasionally experienced lower limb muscle pain. Case 2 was followed up for more than a year, and her had caught up to normal levels. Both patients had no other significant discomfort. Literature search retrieved 0 Chinese literature and 22 English literatures. In addition to the 2 cases reported in this study, a total of 51 patients were identified as CMRD caused by SAR1B gene variations. Twenty-one types of SAR1B variants 10 missense, 4 nonsense, 3 frameshift, 1 in-frame deletion, 1 splice, 1 gross deletion, and 1 gross insertion-deletion were found among the 51 CMRD cases. Among all the patients, 49 cases had lipid malabsorption (43 cases had diarrhea or fatty diarrhea, 17 cases had vomiting, and 12 cases had abdominal distension), 45 cases had lipid soluble Vitamin deficiency (43 cases had Vitamin E deficiency, 10 cases had Vitamin A deficiency, 9 case had Vitamin D deficiency, and 5 cases had Vitamin K deficiency), 35 cases had failure to thrive, 32 cases had liver involvement (32 cases had elevated transaminases, 5 cases had fatty liver, and 3 cases had hepatomegaly), 29 cases had white small intestinal mucosa under endoscopy, and 17 cases had elevated creatine kinase, 14 cases had neuropathy, 5 cases had ocular lesions, 2 cases had acanthocytosis, 1 case had decreased cardiac ejection fraction, and 1 case was symptom-free. Conclusions: Early infancy failure to thrive and lipid malabsorption are common issues for CMRD patients. The laboratory tests are characterized by hypocholesterolemia with or without fat-soluble Vitamin deficiency, elevated liver enzymes and (or) creatine kinase. Currently, missense variations are frequent among the primarily homozygous SAR1B genotypes that have been described.
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Mutación , Humanos , Masculino , Femenino , Niño , Lactante , Hipobetalipoproteinemias/genética , Hipobetalipoproteinemias/diagnóstico , Síndromes de Malabsorción , Proteínas de Unión al GTP MonoméricasAsunto(s)
Quilomicrones , Fibrosis Quística , Insuficiencia Pancreática Exocrina , Ácidos Grasos , Fibrosis Quística/metabolismo , Fibrosis Quística/complicaciones , Humanos , Quilomicrones/metabolismo , Ácidos Grasos/metabolismo , Insuficiencia Pancreática Exocrina/metabolismo , Síndromes de Malabsorción/metabolismoRESUMEN
OBJECTIVES: To investigate differences in the incidence of enteropathy or intestinal malabsorption in patients taking angiotensin II receptor blockers (ARBs), angiotensin-converting enzyme inhibitor (ACEI), calcium channel blocker (CCB), and beta blockers (BBs) at a single center in Korea. METHODS: In this retrospective study, we utilized data from the Yangsan electronic medical records to identify 129,169 patients. These individuals were prescribed olmesartan, other ARBs, ACEI, CCB, and BBs between November 2008 and February 2021. RESULTS: Of the 44,775 patients, 51 (0.11%) were observed to have enteropathy or intestinal malabsorption. Compared with the ACEI group, the adjusted odds ratios (ORs) for enteropathy and intestinal malabsorption were OR=1.313 (95% confidence interval [CI]: [0.188-6.798], p=0.893) for olmesartan, OR=0.915 (95% CI: [0.525-1.595], p=0.754) for the other ARBs, OR=0.928 (95% CI: [0.200-4.307]; p=0.924) for the CCB, and OR=0.663 (95% CI: [0.151-2.906]; p=0.586) for the BBs group. These findings were adjusted for factors such as age, gender, duration of antihypertensive medication, and comorbidities. CONCLUSION: In a retrospective cohort study of patients on antihypertensive medications, no significant difference was found in the incidence of enteropathy or intestinal malabsorption when ACEI was compared to olmesartan, other ARBs, CCB, and BBs.
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Antagonistas de Receptores de Angiotensina , Inhibidores de la Enzima Convertidora de Angiotensina , Antihipertensivos , Bloqueadores de los Canales de Calcio , Síndromes de Malabsorción , Humanos , Estudios Retrospectivos , Masculino , Femenino , Persona de Mediana Edad , Síndromes de Malabsorción/epidemiología , Síndromes de Malabsorción/complicaciones , Antihipertensivos/uso terapéutico , Anciano , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Antagonistas de Receptores de Angiotensina/uso terapéutico , Antagonistas de Receptores de Angiotensina/efectos adversos , Bloqueadores de los Canales de Calcio/uso terapéutico , Enfermedades Intestinales/epidemiología , Antagonistas Adrenérgicos beta/uso terapéutico , Antagonistas Adrenérgicos beta/efectos adversos , Imidazoles/uso terapéutico , Imidazoles/efectos adversos , Tetrazoles/uso terapéutico , Incidencia , Adulto , República de Corea/epidemiología , Estudios de Cohortes , Hipertensión/tratamiento farmacológico , Hipertensión/epidemiologíaRESUMEN
AIMS: To explore the relationship between nutritional intake, fermentable oligo-, di, monosaccharides and polyols, and carbohydrate malabsorption, with gastrointestinal symptoms during a 56 km trail ultramarathon event and identify differences in nutritional intake between runners with severe and non-severe gastrointestinal symptoms. METHODS: Forty-four ultramarathoners recorded and self-reported dietary intake 3 days before, morning of, and during the ultramarathon with gastrointestinal symptoms obtained retrospectively and nutrient analysis via FoodWorks. Carbohydrate malabsorption was determined via breath hydrogen content pre- and post-race. Spearman's rank-order and Mann-Whitney U-tests were used to identify relationships and differences between groups. RESULTS: Total fermentable oligo-, di, monosaccharides and polyols intake were not associated with gastrointestinal symptoms, but weak associations were observed for lower energy (rs = -0.302, p = 0.044) and fat intake (rs = -0.340, p = 0.024) 3 days before with upper gastrointestinal symptoms and higher caffeine intake 3 days before with overall gastrointestinal symptoms (rs = 0.314, p = 0.038). Total fermentable oligo-, di-, monosaccharides and polyols intake and breath hydrogen were not different between those with severe versus non-severe symptoms (p > 0.05). Although those with severe symptoms had higher caffeine (p = 0.032), and total polyols intake (p = 0.031) 3 days before, and higher % energy from fat (p = 0.043) and sorbitol intake (p = 0.026) during the race, and slower ultramarathon finish times (p = 0.042). CONCLUSION: Total fermentable oligo-, di-, and monosaccharides intake and carbohydrate malabsorption were not associated with gastrointestinal symptoms. Additional research on the effect of fat, caffeine, and polyol intake on exercise-associated gastrointestinal symptoms is warranted and presents new nutritional areas for consideration when planning nutritional intake for ultramarathoners.
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Carbohidratos de la Dieta , Fermentación , Enfermedades Gastrointestinales , Monosacáridos , Carrera , Humanos , Masculino , Carrera/fisiología , Femenino , Persona de Mediana Edad , Carbohidratos de la Dieta/administración & dosificación , Adulto , Monosacáridos/administración & dosificación , Enfermedades Gastrointestinales/etiología , Estudios Retrospectivos , Polímeros , Síndromes de Malabsorción/metabolismo , Pruebas RespiratoriasRESUMEN
BACKGROUND: Food malabsorption and intolerance is implicated in gastrointestinal symptoms among patients with irritable bowel syndrome (IBS). Key triggers include fructose and fructan. Prior studies examined fructose and fructan malabsorption separately in IBS patients. None have concurrently assessed both within the same patient group. We aimed to investigate the association between fructose and fructan malabsorption in the same patients with IBS using hydrogen breath testing (HBT). METHODS: We retrospectively identified patients with IBS who underwent fructose and fructan HBTs and abstracted their results from the electronic medical record. Fructose and fructan HBTs were performed by administering a 25 g fructose solution or 10 g fructan solution, followed by breath hydrogen readings every 30 min for 3 h. Patients were positive for fructose or fructan malabsorption if breath hydrogen levels exceeded 20 ppm. RESULTS: Of 186 IBS patients, 71 (38.2%) were positive for fructose malabsorption and 91 (48.9%) were positive for fructan malabsorption. Of these patients, 42 (22.6%) were positive for fructose malabsorption and fructan malabsorption. Positive fructose HBT readings were significantly associated with positive fructan HBT readings (p = 0.0283). Patients positive for fructose malabsorption or fructan malabsorption had 1.951 times higher odds of testing positive for the other carbohydrate. CONCLUSIONS: Our results reveal a clinically significant association between fructose malabsorption and fructan malabsorption in patients with IBS. Fructan malabsorption should be assessed in patients with fructose malabsorption, and vice versa. Further studies are required to identify the mechanisms underlying our findings.
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Pruebas Respiratorias , Fructanos , Fructosa , Síndrome del Colon Irritable , Síndromes de Malabsorción , Humanos , Síndrome del Colon Irritable/metabolismo , Síndrome del Colon Irritable/complicaciones , Fructosa/metabolismo , Femenino , Masculino , Estudios Retrospectivos , Síndromes de Malabsorción/metabolismo , Síndromes de Malabsorción/etiología , Síndromes de Malabsorción/complicaciones , Fructanos/metabolismo , Adulto , Persona de Mediana Edad , Hidrógeno/análisis , Hidrógeno/metabolismoRESUMEN
In hypothyroid patients needing large doses of levothyroxine (L-T4) (>1.7-2 µg/kg/day) to reach euthyroidism, lactose intolerance (LI) needs to be excluded, owing to the high prevalence in the population. If LI is present, a lactose-free diet decreases the rate of L-T4 malabsorption. However, an increased requirement of L-T4 is described in patients with LI, which can be beneficially treated using lactose-free L-T4 formulation. The lactose-free liquid L-T4 formulation is able to circumvent LI malabsorption leading to the normalization of thyroid-stimulating hormone (TSH) in patients with subclinical hypothyroidism and long-term stable TSH levels.
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Hipotiroidismo , Intolerancia a la Lactosa , Tiroxina , Humanos , Intolerancia a la Lactosa/tratamiento farmacológico , Tiroxina/uso terapéutico , Tiroxina/farmacocinética , Hipotiroidismo/tratamiento farmacológico , Hipotiroidismo/metabolismo , Lactosa , Femenino , Síndromes de Malabsorción/tratamiento farmacológico , Síndromes de Malabsorción/metabolismo , Masculino , Persona de Mediana Edad , Tirotropina/sangre , Tirotropina/metabolismo , AdultoRESUMEN
INTRODUCTION: The multifactorial etiology of gastroenteritis emphasizes the need for different laboratory methods to identify or exclude infectious agents and evaluate the severity of diarrheal disease. OBJECTIVE: To diagnose the infectious etiology in diarrheic children and to evaluate some fecal markers associated with intestinal integrity. MATERIALS AND METHODS: The study group comprised 45 children with diarrheal disease, tested for enteropathogens and malabsorption markers, and 76 children whose feces were used for fat evaluation by the traditional and acid steatocrit tests. RESULTS: We observed acute diarrhea in 80% of the children and persistent diarrhea in 20%. Of the diarrheic individuals analyzed, 40% were positive for enteropathogens, with rotavirus (13.3%) and Giardia duodenalis (11.1%) the most frequently diagnosed. Among the infected patients, occult blood was more evident in those carrying pathogenic bacteria (40%) and enteroviruses (40%), while steatorrhea was observed in infections by the protozoa G. duodenalis (35.7%). Children with diarrhea excreted significantly more lipids in feces than non-diarrheic children, as determined by the traditional (p<0.0003) and acid steatocrit (p<0.0001) methods. Moreover, the acid steatocrit method detected 16.7% more fecal fat than the traditional method. CONCLUSIONS: Childhood diarrhea can lead to increasingly severe nutrient deficiencies. Steatorrhea is the hallmark of malabsorption, and a stool test, such as the acid steatocrit, can be routinely used as a laboratory tool for the semi-quantitative evaluation of fat malabsorption in diarrheic children.
Introducción. La etiología multifactorial de la gastroenteritis enfatiza la necesidad de usar diferentes métodos de laboratorio para identificar o excluir agentes infecciosos y evaluar la gravedad de la enfermedad diarreica. Objetivo. Diagnosticar la etiología infecciosa de la diarrea en niños y evaluar algunos marcadores fecales asociados con la integridad intestinal. Materiales y métodos. Se estudiaron 45 niños con enfermedad diarreica, en los cuales se evaluaron la presencia de enteropatógenos y los marcadores de malabsorción. Se analizaron las muestras fecales de 76 niños, mediante las pruebas de esteatocrito tradicional y esteatocrito ácido, para la cuantificación de la grasa. Resultados. Se observó diarrea aguda en el 80 % de los niños y diarrea persistente en el 20 %. De los individuos con diarrea, el 40 % fue positivo para enteropatógenos; los más diagnosticados fueron rotavirus (13,3 %) y Giardia duodenalis (11,1 %). Entre los pacientes infectados, la sangre oculta fue más evidente en aquellos portadores de bacterias patógenas (40 %) o enterovirus (40%), mientras que la esteatorrea se observó en infecciones por el protozoo G. duodenalis (35,7 %). Los niños con diarrea excretaron significativamente más lípidos en las heces que aquellos sin diarrea, según lo determinado por los métodos de esteatocrito tradicional (p<0,0003) y esteatocrito ácido (p<0,0001). Conclusiones. La diarrea infantil puede provocar deficiencias graves de nutrientes. La esteatorrea es distintiva de la malabsorción intestinal y puede detectarse mediante la estimación del esteatocrito ácido. Esta prueba podría utilizarse de forma rutinaria como una herramienta de laboratorio para la evaluación semicuantitativa de la malabsorción de grasas en niños con diarrea.
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Diarrea , Heces , Síndromes de Malabsorción , Humanos , Diarrea/parasitología , Diarrea/etiología , Diarrea/microbiología , Heces/parasitología , Preescolar , Lactante , Síndromes de Malabsorción/complicaciones , Síndromes de Malabsorción/etiología , Masculino , Femenino , Niño , Giardiasis/complicaciones , Esteatorrea/etiología , Gastroenteritis/complicaciones , Gastroenteritis/parasitología , Gastroenteritis/microbiología , Sangre OcultaRESUMEN
Enteric hyperoxaluria is a metabolic disorder resulting from conditions associated with fatty acid malabsorption and characterized by an increased urinary output of oxalate. Oxalate is excessively absorbed in the gut and then excreted in urine where it forms calcium oxalate crystals, inducing kidney stones formation and crystalline nephropathies. Enteric hyperoxaluria is probably underdiagnosed and may silently damage kidney function of patients affected by bowel diseases. Moreover, the prevalence of enteric hyperoxaluria has increased because of the development of bariatric surgical procedures. Therapeutic options are based on the treatment of the underlying disease, limitation of oxalate intakes, increase in calcium salts intakes but also increase in urine volume and correction of hypocitraturia. There are few data regarding the natural evolution of kidney stone events and chronic kidney disease in these patients, and there is a need for new treatments limiting kidney injury by calcium oxalate crystallization.
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Hiperoxaluria , Humanos , Hiperoxaluria/terapia , Hiperoxaluria/complicaciones , Hiperoxaluria/etiología , Oxalatos/metabolismo , Oxalato de Calcio/metabolismo , Síndromes de Malabsorción/terapia , Síndromes de Malabsorción/fisiopatología , Síndromes de Malabsorción/complicaciones , Síndromes de Malabsorción/etiologíaRESUMEN
A male patient in his 30s presented with complaints of acute abdominal pain, black stools and red-coloured urine. CT revealed thrombi in the splenic and left renal veins, leading to infarctions. An endoscopy displayed scalloping of the duodenal folds, indicative of intestinal malabsorption syndrome (IMS). Histopathological examination confirmed IMS. Due to the presence of intravascular haemolysis, haemoglobinuria and thrombotic complications, paroxysmal nocturnal haemoglobinuria (PNH) was suspected and subsequently confirmed by flow cytometry. Thus, a diagnosis of classic PNH with IMS and thrombotic complications was established. This unique case highlights the coexistence of PNH and IMS, resembling the complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy disease, suggesting potential shared pathophysiology.
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Abdomen Agudo , Lesión Renal Aguda , Hemoglobinuria Paroxística , Síndromes de Malabsorción , Trombosis , Humanos , Masculino , Abdomen Agudo/etiología , Lesión Renal Aguda/etiología , Lesión Renal Aguda/complicaciones , Hemoglobinuria Paroxística/complicaciones , Hemoglobinuria Paroxística/diagnóstico , Síndromes de Malabsorción/complicaciones , Síndromes de Malabsorción/diagnóstico , Trombosis/complicaciones , AdultoRESUMEN
Patients who come to clinical consultation for chronic diarrhoea (i.e., diarrhoea lasting for more than four weeks) may suffer from a wide range of clinical conditions. The possible diagnoses range from a misunderstanding of what can be considered normal and what pathological in terms of daily bowel movements, to a severe malabsorption syndrome. Since the list of possible causes of chronic diarrhoea can be puzzling, the physician's approach needs to be systematic and structured in order to allow the correct diagnosis and treatment. This article proposes an algorithm for the diagnosis of chronic diarrhoea and discusses in detail the key clinical aspects of celiac disease, which is considered a paradigmatic disease as regards chronic malabsorptive diarrhoea.
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Enfermedad Celíaca , Síndromes de Malabsorción , Humanos , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/diagnóstico , Enfermedad Celíaca/terapia , Diarrea/diagnóstico , Diarrea/etiología , Diarrea/terapia , Síndromes de Malabsorción/complicaciones , Síndromes de Malabsorción/diagnóstico , Síndromes de Malabsorción/terapia , Enfermedad CrónicaRESUMEN
OBJECTIVE: To explore the clinical and genetic characteristics of a neonate with Microvillus inclusion disease (MVID). METHODS: A neonate with MVID admitted to the First Affiliated Hospital of Zhengzhou University in May 2019 was selected as the study subject. Clinical data were collected. Whole exome sequencing (WES) was carried out, and candidate variants were verified by Sanger sequencing and multiple ligation-dependent probe amplification (MLPA). A literature was also carried out to summarize the clinical and genetic characteristics of MVID. RESULTS: The prematurely born neonate had presented with unexplained refractory diarrhea and metabolic acidosis. Active symptomatic treatment was ineffective, and the child had died at 2 months old. WES revealed that he had harbored compound heterozygous variants of the MYO5B gene, namely c.1591C>T (p.R531W) and deletion of exon 9. Sanger sequencing showed that the R531W variant was inherited form his father, and MLPA confirmed that the exon 9 deletion was inherited from his mother. Seven children with MVID were reported in China, of which one was lost during follow-up and six had deceased. One hundred eighty eight patients were reported worldwide and only one was cured. The clinical features of MVID had included refractory diarrhea, metabolic acidosis and poor prognosis. CONCLUSION: The child was diagnosed with MVID due to the compound heterozygous variants of the MYO5B gene, which has provided a basis for genetic counseling and prenatal diagnosis.
Asunto(s)
Acidosis , Síndromes de Malabsorción , Microvellosidades , Mucolipidosis , Miosina Tipo V , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Diarrea/genética , Síndromes de Malabsorción/genética , Microvellosidades/patología , Mucolipidosis/genética , Cadenas Pesadas de Miosina , Miosina Tipo V/genéticaRESUMEN
Cystic fibrosis (CF) is a progressive, genetic, multi-organ disease affecting the respiratory, digestive, endocrine, and reproductive systems. CF can affect any aspect of the gastrointestinal (GI) tract, including the esophagus, stomach, small intestine, colon, pancreas, liver, and gall bladder. GI pathophysiology associated with CF results from CF membrane conductance regulator (CFTR) dysfunction. The majority of people with CF (pwCF) experience exocrine pancreatic insufficiency resulting in malabsorption of nutrients and malnutrition. Additionally, other factors can cause or worsen fat malabsorption, including the potential for short gut syndrome with a history of meconium ileus, hepatobiliary diseases, and disrupted intraluminal factors, such as inadequate bile salts, abnormal pH, intestinal microbiome changes, and small intestinal bacterial overgrowth. Signs and symptoms associated with fat malabsorption, such as abdominal pain, bloating, malodorous flatus, gastroesophageal reflux, nausea, anorexia, steatorrhea, constipation, and distal intestinal obstruction syndrome, are seen in pwCF despite the use of pancreatic enzyme replacement therapy. Given the association of poor nutrition status with lung function decline and increased mortality, aggressive nutrition support is essential in CF care to optimize growth in children and to achieve and maintain a healthy body mass index in adults. The introduction of highly effective CFTR modulator therapy and other advances in CF care have profoundly changed the course of CF management. However, GI symptoms in some pwCF may persist. The use of current knowledge of the pathophysiology of the CF GI tract as well as appropriate, individualized management of GI symptoms continue to be integral components of care for pwCF.
Asunto(s)
Fibrosis Quística , Enfermedades Gastrointestinales , Síndromes de Malabsorción , Desnutrición , Niño , Adulto , Humanos , Fibrosis Quística/complicaciones , Fibrosis Quística/tratamiento farmacológico , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Síndromes de Malabsorción/complicaciones , Síndromes de Malabsorción/tratamiento farmacológico , Enfermedades Gastrointestinales/tratamiento farmacológico , Enfermedades Gastrointestinales/etiología , Enfermedades Gastrointestinales/diagnóstico , Desnutrición/complicacionesRESUMEN
Fat digestion and absorption play crucial roles in maintaining energy homeostasis and supporting essential physiological functions. The initial stage of fat digestion occurs in the stomach, where gastric lipase begins the hydrolysis of triglycerides. However, most fat digestion takes place in the small intestine via pancreatic enzymes and bile salts. Emulsification of fat by bile acids facilitates enzymatic action, breaking down triglycerides into free fatty acids and monoglycerides, which are then able to be absorbed by enterocytes. Fat malabsorption can result from various underlying conditions, such as exocrine pancreatic insufficiency, bile acid disorders, or intestinal diseases. The clinical manifestations of fat malabsorption include steatorrhea, malnutrition, and deficiencies of fat-soluble vitamins. Diagnostic approaches involve assessing fecal fat levels, imaging studies, and various functional tests to identify the specific etiology. This review article will describe the normal physiologic process of fat digestion and absorption and discuss various pathophysiology that can lead to fat malabsorption within the gastrointestinal tract as well as their respective diagnostic testing modalities. Effective digestion of fat is essential for overall health, because it allows for absorption of many essential nutrients, plays an integral role in cellular and structural function, and supplies energy to the body. When this is dysfunctional, disorders of malabsorption can occur. This article will give a brief overview of the physiologic process of fat digestion and absorption in healthy individuals as well as review important pathophysiology that can lead to fat malabsorption within the gastrointestinal tract and current diagnostic testing modalities.