Gallbladder Motility in Children With Down Syndrome

Taşdemir, Haydar Ali; Cetinkaya, Melih Cevdet; Polat, Cafer; Belet, Ümit; Kalaycı, Ayhan Gazi; Akbaş, Serkan

doi:10.1097/00005176-200408000-00012

Cited by 18 publications

(19 citation statements)

References 27 publications

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“…Interestingly, cholelithiasis is more frequent and occurs earlier in patients with DS [82][83][84]. This is probably related to gallbladder hypomotility observed in DS [85]. Helicobacter pylori, which is found in the bile and frequently observed in persons with intellectual disability, is suspected to favor bile duct neoplasms and pancreatic neoplasms [86].…”

Section: Malignant Neoplasmsmentioning

confidence: 99%

“…We could find only two genes predisposing to pancreatic and colon cancer [60] or esophageal squamous cell carcinoma [33] (Table 2). In addition to genetic factors, there are predisposing factors such as immune defects [102], Helicobacter pylori and virus B hepatitis infections, celiac disease, gastrointestinal reflux [29,36], excess of gallstones [83], gallbladder hypomotility [85], and constipation. Digestive malformations are frequent in DS [69], but few neoplasms are associated with them [30].…”

Section: Malignant Neoplasmsmentioning

confidence: 99%

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Aspects of Digestive Tract Tumors in Down Syndrome: A Literature Review

et al. 2006

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The purpose of this study was to describe the digestive neoplasms found in persons with Down syndrome. Due to intellectual disability, persons with Down syndrome do not convey their symptoms and pain, leading to delayed diagnosis and potentially worse outcome. It is thus important to know which organs are at risk for tumors and possible tumor risk factors. In a review of the literature, we found 13 benign tumors and 127 cancers in 1 fetus, 8 children, and 131 adults with Down syndrome. The review suggests a decreased incidence of digestive cancer, however, with a possible increased incidence of neoplasms of the pancreas and gallbladder. The distribution of cancers is distinct from that in the general population and that in persons with other intellectual disabilities who share the same life conditions, suggesting that constitutional protective factors exist. This review may allow a more specific, adapted medical follow-up for persons with Down syndrome and could help to elucidate the oncogenesis of digestive neoplasms.

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Section: Malignant Neoplasmsmentioning

confidence: 99%

Section: Malignant Neoplasmsmentioning

confidence: 99%

Aspects of Digestive Tract Tumors in Down Syndrome: A Literature Review

et al. 2006

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“…[10][11][12][13][14] Reduced production of 5-HIAA was determined in children with Down syndrome. [15] VMA is the final product of catecholamines (epinephrine and norepinephrine) metabolism. Increased urinary concentration of catecholamines, and their metabolites may occur in patients with pheochromocytoma, neuroblastoma, and ganglioneuroma, [16][17][18][19] under physiological conditions the concentration of VMA in urine is below 1.2 mmol=mmol of creatinine.…”

Section: Introductionmentioning

confidence: 99%

Factors Affecting Fluorescence Analysis of Diagnostically Important Urinary Metabolites—Influence of Mixture Composition

Valko-Rokytovská¹,

Hubková²,

Birková³

et al. 2014

Spectroscopy Letters

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The fluorescent analysis of multicomponent biological materials is very difficult. To model a proper system to characterize their quality is therefore indispensable. Influence of mixture composition was studied in a mixture of three naturally occurring diagnostically important urine metabolites: indoxyl sulfate, 5-hydroxyindole-3-acetic acid, and 3-methoxy-4-hydroxymandelic acid. Relationships between these compounds were monitored by measurement of synchronous fluorescence spectrum matrix. The fluorescence emission of 3-methoxy-4-hydroxymandelic acid when combined with indoxyl sulfate, or even with 5-hydroxyindole-3-acetic acid, was utilized for the excitation of indoxyl sulfate or 5-hydroxyindole-3-acetic acid, resulting in an increase in their fluorescence and in a decrease in 3-methoxy-4-hydroxymandelic acid fluorescence intensity.

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“…13,14 Clinical studies in Down syndrome indicate that the gallbladder is small with poor emptying after a meal, suggestive of hypomotility. 15 Table I summarizes the limited available literature relating to the prevalence of gallbladder disease in the general paediatric population and those with Down syndrome. In the US family survey, gallbladder disease was reported by parents of 3% of females with RTT 6 and has also been noted in single case reports of males 16 and females 17 with RTT.…”

mentioning

confidence: 99%

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

Freilinger

Böhm

Lanator

et al. 2014

Develop Med Child Neuro

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AIM This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and identified recommendations for assessment and management of gallbladder disease.METHOD The incidence of cholelithiasis/cholecystectomy was estimated from data describing 270 and 681 individuals with a pathogenic MECP2 mutation in the Australian Rett Syndrome Database and the International Rett Syndrome Phenotype Database respectively. Gallbladder function in 25 females (mean age 16y 5mo, SD 20y 7mo, range 3y 5mo-47y 10mo) with Rett syndrome (RTT) was evaluated with clinical assessment and ultrasound of the gallbladder. The Delphi technique was used to develop assessment and treatment recommendations. RESULTSThe incidence rate for cholelithiasis and/or cholecystectomy was 2.3 (95% confidence interval [CI] 1.1-4.2) and 1.8 (95% CI 1.0-3.0) per 1000 person-years in the Australian and International Databases respectively. The mean contractility index of the gallbladder for the clinical sample was 46.5% (SD 38.3%), smaller than for healthy individuals but similar to children with Down syndrome, despite no clinical symptoms. After excluding gastroesophageal reflux, gallbladder disease should be considered as a cause of abdominal pain in RTT and cholecystectomy recommended if symptomatic.INTERPRETATION Gallbladder disease is relatively common in RTT and should be considered in the differential diagnosis of abdominal pain in RTT.Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in the X-linked methylCpG-binding-protein-2 (MECP2) gene.1 After a period of apparently normal early development, there is a period of regression including loss of purposeful hand use and/or language skills, and the development of distinctive hand stereotypies and impaired gait. There are also supportive criteria including poor growth, respiratory irregularities, and the development of scoliosis.2 Many factors contribute to poor growth in RTT including altered oropharyngeal dysfunction and reduced food intake, 3,4 and problems with gastroesophageal motility such as reflux and constipation. 5Dysmotility may result from absent primary or secondary intestinal waves and the presence of tertiary intestinal waves as observed during videofluoroscopy, with concurrent delayed gastric emptying and atony.3 In a recent questionnaire-based survey in the USA (n=983), feeding problems were reported in 81% and gastrointestinal problems in 92% of individuals with Rett syndrome. 6 Gastrointestinal dysfunction in RTT contributes to clinical severity and affects the daily lives of the females and their caregivers. 6In general, gallstones are rare in childhood and adolescence, with estimated prevalence between 0% and 2% in the small number of studies undertaken. [7][8][9][10][11][12] However, there appears to be a higher prevalence in particular populations of children, such as those with Down syndrome, with reported prevalences up to 25%. 13,14 Clinical studies in Down syndrome indi...

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Gallbladder Motility in Children With Down Syndrome

Abstract: CI was lower in patients with Down syndrome, suggesting gallbladder hypomotility. Hypomotility may be a feature associated with the high prevalence of gallstones in Down syndrome.

Cited by 18 publications

References 27 publications

Aspects of Digestive Tract Tumors in Down Syndrome: A Literature Review

Aspects of Digestive Tract Tumors in Down Syndrome: A Literature Review

Factors Affecting Fluorescence Analysis of Diagnostically Important Urinary Metabolites—Influence of Mixture Composition

Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

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