Phenotype of cystic kidney disease in children with orphan diseases and hereditary syndromes due to genetic or chromosomal pathology (description of 9 clinical cases)

The use of DNA diagnostics makes it possible to clarify the clinical diagnosis of hereditary kidney disease, determine a personalized treatment strategy, and predict the patient’s health status. Kidney cysts with orphan syndromes and chromosomal mutations are characterized by a high risk of progression of chronic kidney disease to end–stage renal failure in childhood. In 9 patients aged 4 months — 17 years (6 girls and 3 boys) with cystic kidney disease in orphan diseases and hereditary syndromes, assessed the features of the phenotype, the progression of chronic kidney disease. Children over the age of 2 years were stratified with chronic kidney disease stages by NKF–K/DOQI (2002) according to the criterion of glomerular filtration rate calculated by creatinine clearance in the Shwartz formula and the level of microalbuminuria / proteinuria. The description of the phenotype features of kidney cysts in 9 children with orphan diseases and hereditary syndromes is presented: Senior-Løken 6 (1), Meckel–Gruber4 (1), CHARGE (1), papillorenal (1), with deletion of the long arm of chromosome 2 (2), microdeletion syndrome 17q12 (2), with deletion of the short arm of chromosome 12 (1). 6 children were diagnosed with cystosis of both kidneys, 2 with unilateral multicystic dysplastic kidney, 1 with non-functioning multicystic and cystic contralateral kidneys. In 2 children aged less than 2 years with a multicystic dysplastic kidney in microdeletion syndrome 17q12 and CHARGE syndromes, renal function is reduced. Of the 6 patients over the age of 2 years, chronic kidney disease was established: stage with preserved renal function in 1, with reduced function in stage 3 in 2, stage 4 in 1 and stage 5 in 2. Two 17-year-old adolescents with an outcome of terminal chronic kidney disease at the age of 12 underwent kidney transplantation. A fatal outcome was found in a proband with nephronophthysis in Meckel–Gruber4 syndrome due mutations of the CEP290 gene. The features of the clinical phenotype and genotype of cystic kidney diseases associated with orphan syndromes Meckel–Gruber4, Senior-Løken 6, CHARGE, papillorenal due to gene mutations and deletion of the long arm of chromosome 2, microdeletion syndrome 17q12 and deletion of the short arm of chromosome 12 in children are described.