Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia

Ho, Josephine; Fox, Danya A.; Innes, A. Micheil; McLeod, Ross; Butzner, Decker; Johnson, Nicole; Trevenen, Cynthia; Kendrick, Victoria; Cole, David E. C.

doi:10.1515/jpem.2010.156

Cited by 12 publications

(10 citation statements)

References 21 publications

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“…Future studies should be directed at the organismal and systemic levels in order to better define the net effect of the absence of the gene. In this respect, studies that characterize the phenotype of CaSR −∕− mice (Rey O et al, 2012 ; Macleod, 2013b ; Cheng et al, 2014 ) or associate SNPs in CaSR for diarrheal conditions (Ho et al, 2010 ; Romero et al, 2015 ) would be useful. Nonetheless, preliminary data from animals (Bovee-Oudenhoven et al, 1996 , 1997 ; Bovee Oudenhoven et al, 1997 , 1999 ) and clinical trials on humans (Bovee-Oudenhoven et al, 2003 ; Cheng et al, 2013 ; Dadu et al, 2015 ) using calcium or other CaSR ligands indicate that activation of this nutrient sensing receptor in vivo does reduce symptoms of infectious diarrheas (also see recent review by Cheng, 2016 ).…”

Section: Casr and Intestinal Absorption And Secretionmentioning

confidence: 99%

The Extracellular Calcium-Sensing Receptor in the Intestine: Evidence for Regulation of Colonic Absorption, Secretion, Motility, and Immunity

et al. 2016

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Different from other epithelia, the intestinal epithelium has the complex task of providing a barrier impeding the entry of toxins, food antigens, and microbes, while at the same time allowing for the transfer of nutrients, electrolytes, water, and microbial metabolites. These molecules/organisms are transported either transcellularly, crossing the apical and basolateral membranes of enterocytes, or paracellularly, passing through the space between enterocytes. Accordingly, the intestinal epithelium can affect energy metabolism, fluid balance, as well as immune response and tolerance. To help accomplish these complex tasks, the intestinal epithelium has evolved many sensing receptor mechanisms. Yet, their roles and functions are only now beginning to be elucidated. This article explores one such sensing receptor mechanism, carried out by the extracellular calcium-sensing receptor (CaSR). In addition to its established function as a nutrient sensor, coordinating food digestion, nutrient absorption, and regulating energy metabolism, we present evidence for the emerging role of CaSR in the control of intestinal fluid homeostasis and immune balance. An additional role in the modulation of the enteric nerve activity and motility is also discussed. Clearly, CaSR has profound effects on many aspects of intestinal function. Nevertheless, more work is needed to fully understand all functions of CaSR in the intestine, including detailed mechanisms of action and specific pathways involved. Considering the essential roles CaSR plays in gastrointestinal physiology and immunology, research may lead to a translational opportunity for the development of novel therapies that are based on CaSR's unique property of using simple nutrients such as calcium, polyamines, and certain amino acids/oligopeptides as activators. It is possible that, through targeting of intestinal CaSR with a combination of specific nutrients, oral solutions that are both inexpensive and practical may be developed to help in conditioning the gut microenvironment and in maintaining digestive health.

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Section: Casr and Intestinal Absorption And Secretionmentioning

confidence: 99%

The Extracellular Calcium-Sensing Receptor in the Intestine: Evidence for Regulation of Colonic Absorption, Secretion, Motility, and Immunity

et al. 2016

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“…Previously described liver anomalies include biliary atresia, hepatic fibrosis, and sclerosing cholangitis 23) . Recently, a child with KS displayed inflammatory bowel disease 24) .…”

Section: Clinical Evaluation and Management Of Patients With Ksmentioning

confidence: 99%

Kabuki syndrome: clinical and molecular characteristics

Cheon

2015

Korean J Pediatr

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Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.

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“…Patients with KS might also display positive Coombs tests or a clinically overt autoimmune hemolytic anemia [34,45,47,50], autoimmune thyroiditis, and vitiligo [35,37,38,41,42,45,46,[49][50][51][52][53][54][55][56][57][58] (Table 1). In a mutational analysis referred to 12 Korean patients with KS, Cheon et al [19] reported one 51.8-month-old child with Hashimoto thyroiditis, though negative to the KMT2D mutation analysis.…”

Section: Immunol Resmentioning

confidence: 99%

“…Moreover, two cases of diabetes mellitus have also been reported in patients with KS [10,60], as well as one case of chorea with anti-phospholipid antibodies [46], arthritis [61], celiac disease [37], and Crohn's disease [53].…”

Section: Immunol Resmentioning

confidence: 99%