[Ileocecal valve insufficiency as visceral sign of undifferentiated connective tissue dysplasia].
OBJECTIVE
To study prevalence of markers of connective tissue dysplasia (CTD) in patients with primary insufficiency of ileocecal valve (PIIV).


METHODS
The trial included 87 patients (21 men and 66 women aged 13 to 64 years) with irrigoscopy-documented barium reflux into the small intestine. The occurrence of external phenotypical markers of CTD was studied at general examination and antropometry, of visceral ones--at ultrasound investigation of the heart, abdominal organs and the kidneys. The state of the connective tissue was assessed by skin biopsy histology.


RESULTS
PIIV patients demonstrated a great number of dysembryogenic stigma typical for CTD: asthenic constitution, hypotrophy, chest deformation, foot and spine ligaments weakness, etc. A radial-lacunar type of the iris of the eye was described for the first times among external CTD phenotypical markers. Such visceral CTD markers as mitral prolapse, left ventricular false chorda, gallbladder deformity, nephroptosis occurred in the PIIV patients significantly more frequently. Morphological characteristics of the skin in PIIV patients were similar to those registered in patients with cardial manifestations of CTD.


CONCLUSIONS
The above external and visceral phenotypical markers and skin morphology give arguments for referring PIIV to signs of CTD. Such position can open new prospects for pathogenetic treatment of PIIV.
Klemenov
A V
AV
Martynov
V L
VL
Torgushina
I S
IS
D000293:Adolescent; D000328:Adult; D003240:Connective Tissue Diseases / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007080:Ileocecal Valve / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D014781:Viscera / Q000503:physiopathology*