ESPN 51th Annual Meeting

ESPN 2018


 
FEATURES OF CAKUT AT THE RUBINSTEIN-TAYBI SYNDROME
IRINA KUTYRLO 1 NADEZHDA SAVENKOVA 1 ZHANNA LEVIASHVILI 1 OLGA LYUBIMOVA 1

1- SAINT-PETERSBURG STATE PEDIATRIC MEDICAL UNIVERSITY
 
Introduction:

 Identify the features of congenital anomalies of the kidney and urinary tract (CAKUT) at the Rubinstein-Taybi syndrome, OMIM 180849.

Material and methods:

 Examined a girl N., 6 years old. Methods:  mixed cystography, ultrasound examination of the urinary system, dynamic renoscintigraphy, cystoscopy, static nephroscintigraphy, stage of chronic kidney disease (CKD) classified by glomerular filtration rate (GFR)  in Schwartz formula.

Results:

 The patient has a lesion of the following organs and systems: Musculoskeletal system: postnatal growth deficiency, microcephaly, brachiocephalic skull (dysmorphic facial features: highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia; abnormal teeth growth, malocclusion, caries; anomalies in the structure of the upper limbs: hands of small size, short second finger, proximally located first finger, wide with pronounced angles on arms and legs); Sensory organs: eyes - stenosis of the nasolacrimal duct, dacryocysts, epicanthus, hypertelorism, complex hypermetropic astigmatism, partial atrophy of the discus nerve; ears - sensorineural hearing loss; Cardiovascular system: small anomalies of the development of the heart - chord noise due to changes in the position of the chords of the ventricles of the heart;  CAKUT (ureterohydronephrosis bilateral, vesicoureteral reflux passive bilateral IV-V; secondary obstructive pyelonephritis; GFR 53.4 ml/min, CKD C3); Mental retardation, delayed development, goes from 3 years, is accustomed to the toilet with 5 years, pronounced delay in speech – allalia; Behavior: decreased concentration, impulsivity, capriciousness, hyperactivity and characteristic grimacing or abnormal smile.

Conclusions:

 Congenital anomalies of the kidney and urinary tract in 6 years olded  girl with Rubinstein-Taybi syndrome progressed in CKD C3.