Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction

2020 ◽  
Author(s):  
Ivana Matera ◽  
Domenico Bordo ◽  
Marco Di Duca ◽  
Margherita Lerone ◽  
Giuseppe Santamaria ◽  
...  
Keyword(s):  
Allelic Heterogeneity ◽  
Intestinal Pseudo Obstruction

scholarly journals Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 786
Author(s):  
Antonella Diamanti ◽  
Giacomo Calvitti ◽  
Diego Martinelli ◽  
Emma Santariga ◽  
Teresa Capriati ◽  
...  
Keyword(s):  
Parenteral Nutrition ◽  
Intestinal Failure ◽  
Present Review ◽  
Special Focus ◽  
Minimal Amount ◽  
Pathophysiological Mechanisms ◽  
Liver And Pancreas ◽  
Comprehensive Search ◽  
Therapeutic Tools ◽  
Intestinal Pseudo Obstruction

Background: Intestinal failure (IF) is defined as reduction in functioning gut mass below the minimal amount necessary for adequate digestion and absorption. In most cases, IF results from intrinsic diseases of the gastrointestinal tract (digestive IF) (DIF); few cases arise from digestive vascular components, gut annexed (liver and pancreas) and extra-digestive organs or from systemic diseases (non-digestive IF) (NDIF). The present review revised etiology and treatments of DIF and NDIF, with special focus on the pathophysiological mechanisms, whereby NDIF develops. Methods: We performed a comprehensive search of published literature from January 2010 to the present by selecting the following search strings: “intestinal failure” OR “home parenteral nutrition” OR “short bowel syndrome” OR “chronic pseudo-obstruction” OR “chronic intestinal pseudo-obstruction” OR “autoimmune enteropathy” OR “long-term parenteral nutrition”. Results: We collected overall 1656 patients with well-documented etiology of IF: 1419 with DIF (86%) and 237 with NDIF (14%), 55% males and 45% females. Among DIF cases, 66% had SBS and among NDIF cases 90% had malabsorption/maldigestion. Conclusions: The improved availability of diagnostic and therapeutic tools has increased prevalence and life expectancy of rare and severe diseases responsible for IF. The present review greatly expands the spectrum of knowledge on the pathophysiological mechanisms through which the diseases not strictly affecting the intestine can cause IF. In view of the rarity of the majority of pediatric IF diseases, the development of IF Registries is strongly required; in fact, through information flow within the network, the Registries could improve IF knowledge and management.

Effects of erythromycin in chronic idiopathic intestinal pseudo-obstruction

1996 ◽  
Vol 31 (6) ◽  
pp. 855-859 ◽  
Author(s):  
Takeshi Minami ◽  
Hiroyuki Nishibayashi ◽  
Yasuhisa Shinomura ◽  
Yuji Matsuzawa
Keyword(s):  
Intestinal Pseudo Obstruction

Pheochromocytoma presented as intestinal pseudo-obstruction and hyperamylasemia

2008 ◽  
Vol 26 (8) ◽  
pp. 971.e1-971.e4 ◽  
Author(s):  
Hsi-Wen Wu ◽  
Wen-Ping Liou ◽  
Chih-Chieh Chou ◽  
Yeong-Hwang Chen ◽  
Ching-Hui Loh ◽  
...  
Keyword(s):  
Intestinal Pseudo Obstruction

scholarly journals Hypophosphatasia: A Unique Disorder of Bone Mineralization

2021 ◽  
Vol 22 (9) ◽  
pp. 4303
Author(s):  
Juan Miguel Villa-Suárez ◽  
Cristina García-Fontana ◽  
Francisco Andújar-Vera ◽  
Sheila González-Salvatierra ◽  
Tomás de Haro-Muñoz ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Genetic Disease ◽  
Therapeutic Strategy ◽  
Pediatric Patients ◽  
Bone Mineralization ◽  
Clinical Manifestations ◽  
Allelic Heterogeneity ◽  
Specific Enzyme ◽  
Inorganic Pyrophosphate ◽  
Enzyme Replacement

Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the ALPL gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits high clinical variability largely due to the high allelic heterogeneity of the ALPL gene. HPP is characterized by multisystemic complications, although the most common clinical manifestations are those that occur in the skeleton, muscles, and teeth. These complications are mainly due to the accumulation of inorganic pyrophosphate (PPi) and pyridoxal-5′-phosphate (PLP). It has been observed that the prevalence of mild forms of the disease is more than 40 times the prevalence of severe forms. Patients with HPP present at least one mutation in the ALPL gene. However, it is known that there are other causes that lead to decreased alkaline phosphatase (ALP) levels without mutations in the ALPL gene. Although the phenotype can be correlated with the genotype in HPP, the prediction of the phenotype from the genotype cannot be made with complete certainty. The availability of a specific enzyme replacement therapy for HPP undoubtedly represents an advance in therapeutic strategy, especially in severe forms of the disease in pediatric patients.

Kawasaki Disease Presenting with Intestinal Pseudo-Obstruction

2020 ◽  
Vol 87 (7) ◽  
pp. 569-570 ◽  
Author(s):  
Pediredla Karunakar ◽  
Dhandapany Gunasekaran ◽  
Jaikumar Govindaswamy Ramamoorthy ◽  
Sriram Krishnamurthy ◽  
Avinash Anantharaj ◽  
...  
Keyword(s):  
Kawasaki Disease ◽  
Intestinal Pseudo Obstruction

Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction

2001 ◽  
Vol 59 (2) ◽  
pp. 131-133 ◽  
Author(s):  
R De Giorgio ◽  
M Seri ◽  
RF Cogliandro ◽  
R Cusano ◽  
M Fava ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Intestinal Pseudo Obstruction

scholarly journals Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction

2015 ◽  
Vol 148 (4) ◽  
pp. 771-782.e11 ◽  
Author(s):  
Elena Bonora ◽  
Francesca Bianco ◽  
Lina Cordeddu ◽  
Michael Bamshad ◽  
Ludmila Francescatto ◽  
...  
Keyword(s):  
Intestinal Pseudo Obstruction
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