DELETION OF 12 CHROMOSOME SHORT ARM WITH PHENOTYPIC MANIFESTATIONS OF KIDNEY CYSTOZIS: CLINICAL OBSERVATION
https://doi.org/10.24884/1561-6274-2018-22-3-95-100
Abstract
Deletion 12p (del12p; synonyms: рartial deletion of the short arm of chromosome 12; рartial monosomy of chromosome 12p; рartial monosomy of the short arm of chromosome 12) relates to orphan diseases (ORPHA: 316244; ICD-X: Q93.5) and is characterized by a variety of phenotypic manifestations. The connection of loci candidates 12 chromosome’s short arm with phenotypic manifestations at del12p is described over 40 years of, but rarely the subject of study was the pathology of the urinary system while del12p. M. Stumm et all (2007) indicate pelvic dystopia of cystic kidneys in this mutation. We describe the boy’s clinical observation with cystic kidney disease, the development of neonatal Acute Kidney Injury, with an outcome in Chronic Kidney Disease, lag in neurological and physical development, strabismus, atrial septal defect, micrognatia, laryngomalacia in the short arm interstitial deletions of 12 chromosomes.
About the Author
E. F. Andreeva
Saint-Petersburg State Pediatric Medical University
Russian Federation
pediatrician, nephrologist, assistant of department of faculty pediatrics of the Saint-Petersburg State Pediatric Medical University Affi liations: 194100 Russia, St-Petersburg, Lytovskaya st., 2, St.- Petersburg State Pediatric Medical University
Russian Federation
pediatrician, nephrologist, assistant of department of faculty pediatrics of the Saint-Petersburg State Pediatric Medical University Affi liations: 194100 Russia, St-Petersburg, Lytovskaya st., 2, St.- Petersburg State Pediatric Medical University
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Review
For citations:
Andreeva E.F. DELETION OF 12 CHROMOSOME SHORT ARM WITH PHENOTYPIC MANIFESTATIONS OF KIDNEY CYSTOZIS: CLINICAL OBSERVATION. Nephrology (Saint-Petersburg). 2018;22(3):95-100. (In Russ.) https://doi.org/10.24884/1561-6274-2018-22-3-95-100
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