The aim of the study was to assess the features of development of renal and extrarenal cysts, arterial hypertension, syndrome of portal hypertension in autosomal recessive polycystic kidney disease (ARPKD) in children. Patients and methods. With the aim of establishing the type of inheritance of polycystic kidney disease the genealogical analysis of 12 families, clinical ultrasound of the kidneys and abdominal organs, computed tomography. The study included 14 children with ARPKD. Conducted follow-up study of 14 children with ARPKD to determine the age by the detection of cysts based on ultrasound, the features of the initial clinical manifestations and course, complications and outcome.Results: the Age of the children back to the time of detection of the cysts in the kidneys based on ultrasound when ARPKD was 2.3 ± 0.4 month. Identified a high incidence of arterial hypertension in neonates and infants with ARPKD at 92.9%. Extrarenal location of the cysts is set at 71.4%. Syndrome of portal hypertension, bleeding from varicose veins of esophagus and stomach, melanau installed in 5 (35,7%) children. Of the 14 in 5 (35,7%) patients diagnosed ARPKD children with liver fibrosis, which has a favorable prognosis without the formation of renal failure in infants and early childhood, 9 (64,3%) diagnosed with classic ARPKD in neonates and infants that is characterized by progression to end-stage renal disease in the first year of life.
Туберозный склероз-системное орфанное заболевание. В статье по данным литературы обобщены клинико-генетические особенности, представлены большие и малые критерии диагностики туберозного склероза у детей. Дано подробное описание характерной для туберозного склероза патологии почек, которая существенно осложняет течение и определяет прогноз заболевания. Представлено клиническое наблюдение двух случаев туберозного склероза у детей грудного возраста с очень ранним выявлением поликистоза почек, быстрым ростом почечных кист и увеличением объема почек, с формированием нефрогенной артериальной гипертензии. В обоих клинических случаях наиболее вероятен TSC2/PKD1 синдром («синдром смежного гена»), являющийся следствием одновременной мутации рядом расположенных генов на коротком плече 16-й хромосомы.
Hepatic fibrosis, liver cysts, and portal hypertension are extrarenal manifestations that determine the prognosis of autosomal recessive polycystic kidney disease in children.Purpose. To assess the features of the manifestation and course of liver cystic disease and fibrosis, the development of portal hypertension in the follow-up medical history of children with autosomal recessive polycystic kidney disease.Material and methods. We studied 27 children with autosomal recessive polycystic kidney disease, with two children with a fatal outcome in the neonatal period excluded. 25 children 1–17 years old with autosomal recessive polycystic kidney disease were divided into 2 groups depending on the presence of portal hypertension syndrome. In the long-term follow-up 10 (40%) of 25 children with autosomal recessive polycystic kidney disease had no signs of portal hypertension (group 1), 15 (60%) children had portal hypertension syndrome (group 2). The long-term follow-up, clinical, genealogical, laboratory and instrumental (US, MRI/CT of kidney and abdominal cavity, liver elastography) research methods were used in the study. The diagnosis was confirmed by autopsy for 3 children.Results. There were no cases of changes in the liver and bile ducts characteristic of autosomal recessive polycystic kidney disease by prenatal ultrasound examination. From 27 children with autosomal recessive polycystic kidney disease, in 10 (37%) were diagnosed the liver fibrosis in the long-term follow-up, 22 (81%) had cystic enlargement of intrahepatic veins, of which 15 (68%) had polycystic liver disease, 3 (14%) had Caroli disease. All children with autosomal recessive polycystic kidney disease and portal hypertension syndrome had varicose veins of the esophagus and stomach according to esophagoduodenoscopy, 53% with indications for ligation of phlebectasia, 47% were diagnosed with thrombocytopenia, 67% with anemia, 100% with splenomegaly, 13% with esophageal-gastric bleeding.Conclusion. The differences in the initial manifestations of autosomal recessive polycystic kidney disease were revealed, while no differences in the incidence of hepatic fibrosis and liver cysts were found in 2 compared groups of children.
The article reflects the genetic variants of polycystic kidney disease, describes the modern strategy for the treatment of polycystic kidney disease in children and adults. The authors present the results of clinical trials of vasopressin V2 receptor antagonists (tolvaptan, liksivaptan), a multi-kinase inhibitor (tezevatinib), somatostatin analogues (lankreotide, octreotide), statins (pravastatin), mTOR inhibitors (everolimus, sirolimus), metformin in patients with autosomal recessive and autosomal polycystic kidney disease. The authors discuss the factors determining the prognosis and outcome of these diseases.
For the first time in 1946 E.L. Potter (1901–1993) described the characteristic appearance of stillborns and deceased newborns with bilateral renal agenesis. Due to the further observations Potter distinguished the syndrome (Q60.6) – a set of characteristic external signs that are formed due to the extreme degree of oligohydramnios and intrauterine compression of the fetus. Classical Potter syndrome is diagnosed by the disfunction of both kidneys in the fetus (for example, bilateral agenesis), which leads to death. The term «Potter sequence» or oligohydramnios sequence with diverse causes has received the wide clinical use. The term «renal oligohydramnios» (ROH) is used to describe oligohydramnios resulting from a decrease or absence of fetal kidney function. The authors state that renal oligohydramnios and Potter sequence often develop in the fetus with cystic kidney disease with the formation of cysts in the parenchyma of both kidneys (autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, glomerulocystic kidney disease associated with HNF1ß/TCF2 gene mutations, renal-coloboma syndrome, cystic renal hypoplasia, cystic renal dysplasia with mutations of the CEP55 gene).
THE AIM:to describe the causes, pathogenesis, clinical course and outcome of Potter sequence in children with cystic kidney disease. PATIENTS AND METHODS:the follow-up study of 23 newborns with cystic kidney disease was studied, in which renal oligohydramnios (ROH) was confirmed prenatally by ultrasound (US). RESULTS:Of the 155 children with autosomal dominant polycystic kidney disease (ADPKD), 8 (5,2 %) prenatal after 30 weeks of gestation established ROH, at 26-32 weeks of gestation – cyst in the kidney by US, in 2 of them ROH confirmed simultaneously with the detection of cysts in kidneys of a fetus, 6 – late detection of kidney cysts. Of the 8 newborns with a very early onset ADPKD, prenatal developed in ROH conditions, in 2 (25 %) in the neonatal period diagnosed the Potter phenotype. Of the 20 children with autosomal recessive polycystic kidney disease (ARPKD), 12 (60 %) prenatally revealed ROH after 18 weeks of gestation prenatally, of these, 8 (67 %) in the neonatal period diagnosed the Potter phenotype. Of the 12 newborns with ARPKD, that developed in ROH conditions, in 5 (42 %) kidney cysts were detected prenatally by US at 32-37 weeks of gestation, in 7 (58 %) in the neonatal period. ROH and the Potter phenotype are more common with ARPKD in the fetus than with ADPKD. Among children with ARPKD and ADPKD undergoing ROH, no statistically significant differences in the frequency of deaths in the neonatal and infancy. The characteristics of course and outcome of the Potter sequence in the neonatal and infant periods in a boy with deletion of 12p and cystic kidney disease are described. ROH in 2 children with cystic kidneys and coloboma of the optic nerve disc did not lead to the formation of the Potter phenotype. In 15 children with multicystic kidney prenatal US showed no ROH. CONCLUSION: the results of a follow-up study of children after ROH and the course of the Potter sequence for different cystic kidney disease in children are presented.
РЕФЕРАТ Делеция 12р (del12p; синонимы: рartial deletion of the short arm of chromosome 12; рartial monosomy of chromosome 12p; рartial monosomy of the short arm of chromosome 12) относится к орфанным заболеваниям (ORPHA: 316244; МКБ-10: Q93.5) и характеризуется разнообразием фенотипических проявлений. Представлена взаимосвязь описанных за 40 лет локусов-кандидатов короткого плеча 12-й хромосомы с фенотипическими проявлениями при del12p, однако редко предметом изучения являлась патология органов мочевой системы при del12p. M. Stumm и cоавт. ( 2007) указывают на тазовую дистопию кистозных почек при данной мутации. Нами описано клиническое наблюдение мальчика с кистозом почек, развитием неонатального острого повреждения почек, с исходом в хроническую болезнь почек, отставанием в психомоторном и физическом развитии, косоглазием, ДМПП, микрогнатией, ларингомаляцией при интерстициальной делеции короткого плеча 12-й хромосомы.Ключевые слова: кисты, острое повреждение почек, хроническая болезнь почек, делеция12p 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.
The review provides historical information on the study of renal cystosis that occurs with glomerular cysts, discusses terminology issues and classification of diseases that occur with glomerulocystic kidney. The course features, diagnostic methods, treatment, and prognosis of renal glomerulocystosis in children, renal and extrarenal manifestations of two subtypes of hereditary glomerulocystic kidney disease: autosomal dominant glomerulocystic kidney disease associated with mutations of uromodulin (OMIM 609886) and familial hypoplastic glomerulocystic kidney disease associated with mutations of the HNF-1β (TCF2) gene (OMIM 137920). Diagnostic tetrad of familial hypoplastic glomerulocystic kidney disease, features of course and prognosis of HNF-1β-associated kidney disease with very early onset (VEO), MODY5 diabetes caused by HNF-1β mutation and 17q12 microdeletion syndrome in children were detected. According to the results of ultrasound examination (US), the fetus and newborn reveal hyperechogenicity of the kidney parenchyma, the volume of which is increased or corresponds to normal values. Renal cysts in glomerulocystic kidney are small, located in the cortical layer or subcapsularly, single or multiple, rarely diagnosed in the neonatal period. In young children, US shows a picture of increasing hyperechogenicity of the parenchyma with visualization of renal cysts in the cortical layer or subcapsularly, a decrease in the volume or asymmetry in the size of the kidneys. Urinary syndrome in glomerulocystic kidney in childhood is characterized by hematuria, microproteinuria, magniuria and uraturia in combination with hypostenuria and polyuria. Molecular genetic research reveals the mutation of genes responsible for the development of inherited diseases that occur with glomerulocystic kidney, and largely determines the prognosis and management tactics of the patient. A systematic approach is needed in the diagnosis and treatment of glomerulocystic kidney in children in order to slow the progression of chronic kidney disease and extrarenal manifestations, and to maintain continuity of observation of patients in pediatric and adult nephrological structures.
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