TO THE EDITOR: We read with great interest the article “A novel cohesinopathy causing chronic intestinal pseudo obstruction in 2 siblings and literature review” by Venkatesh et al1 reporting on a gene mutation in 2 patients with a clinical phenotype of chronic intestinal pseudo-obstruction (CIPO). The topic of the genetic analysis in rare forms of severe gut dysmotility is extremely cogent in the neurogastroenterology area especially because the management of CIPO is still largely ineffective and mainly centered on general measures (hydro-electrolyte balance and adequate caloric support often via parenteral nutrition). Thus, investigating genetic and molecular mechanisms may unveil novel therapeutic approaches for this orphan disorder. In any affected patient, either adult or pediatric, CIPO is characterized by a marked derangement of gut propulsion, mimicking a mechanical sub-occlusion, in the absence of any anatomical cause of obstruction. The severity of the clinical presentation is typically associated with disabling digestive symptoms, which contribute to poor quality of life and increased mortality. In the last years, several genetic causes have been identified in different subsets of CIPO patients. Heterozygous mutations in the
In this context, Venkatesh et al1 identified a homozygous variant in
In conclusion, we commend Venkatesh et al1 for their effort aimed at identifying CIPO-causative variants, which is a pivotal approach to better understand the molecular defects underlying this difficult and highly challenging condition. However, data regarding mutations of any detected variants should be carefully detailed to provide a clear-cut understanding for all readers.
This work was supported by Telethon Grant GGP15171 to Elena Bonora and Roberto De Giorgio. Roberto De Giorgio is the recipient of grants from University of Ferrara (FAR funds). Francesca Bianco is supported by a post-doctoral fellowship from the University of Bologna.
Elena Bonora, Francesca Bianco, and Roberto De Giorgio designed and wrote the manuscript