Cakut – Syndrome in Children

Кутырло, И. Э.; Савенкова, Н. Д.

doi:10.24884/1561-6274-2017-3-18-24

Cited by 17 publications

(7 citation statements)

References 14 publications

(22 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…1 It i's considered to be that the signaling role of RAR is the main factor in the development of pronephros, the germination of the ureteral germ in metanephros and the early development of the genitals. 1,12 According to the results of a foreign study, during RNA sequencing as a result of GREB1L knockdown in vitro, a sharp decrease in the activity of key PAX2 and PTH1R molecules involved in kidney development was detected, which confirms the important role of the GREB1L gene in the development of metanephros Figure 1. 8 However, the mechanism of regulation of renal function by the GREB1L gene and variants of its interactions with key regulators remain unknown.…”

Section: Discussionmentioning

confidence: 69%

“…CAKUT is one of the severe congenital developmental defects in children, which includes a wide range of anomalies of varying severity resulting from genetic and environmental changes, as well as molecular signals disorders during the development of the urinary tract Table 4. [1][2][3] Prenatally, CAKUT is detected in 20-30% of cases among all fetal abnormalities, its prevalence in the world is estimated as 4-60:10,000 births. 4,5 CAKUT increases the mortality rate and morbidity rate with the development of chronic renal failure (CRF) in 40-50% of cases.…”

Section: Discussionmentioning

confidence: 99%

“…One of the most severe manifestations of CAKUT is renal agenesis (RA). 1 It is known that pathogenic variants in the GREB1L gene can lead to renal hypodysplasia/aplasia, type 3 (RHDA3), however, this disease may be characterized by incomplete penetrance. Pathogenic variants of the UMOD gene are a common cause of chronic kidney disease (CKD) and are associated with the development of autosomal dominant tubulointerstitial kidney disease type 1 (ADTKD1), familial hyperuricemic nephropathy and cystic kidney disease.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Untitled

2024

UNOAJ

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Untitled

2024

UNOAJ

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 99%

Development of steroid-resistant nephrotic syndrome in a child with CAKUT

Zaikova,

Mikhalkova,

Dlin

et al. 2024

UNOAJ

View full text Add to dashboard Cite

Introduction: One of the congenital anomalies of the kidneys and urinary tracts (CAKUT) is renal hypodysplasia/aplasia type 3 (PHDA3), caused by pathogenic variants in the GREB1L gene not associated with steroid-resistant nephrotic syndrome (SRNS). PGDA3 leads to chronic kidney disease (CKD). Variants in the UMOD gene associated with autosomal dominant tubulointerstitial kidney disease (ATKD-UMOD) also lead to CKD. The association of the GREB1L/UMOD genes with SRNS has not been previously described. Purpose of the article: To demonstrate a rare clinical case of SRNS in a child with CAKUT. Patients and methods: A patient with CAKUT in the form of PGDA3 and ADTBP-UMOD is observed in the department of nephrology for 2 years. Post-infectious development of SRNS required a revision of the genetic screening. Results: On the whole-genome sequencing were found a variability in the genes that cause CAKUT, with no candidate genes for SRNS. Conclusion: The described case stands out with clinical polymorphism of CAKUT and the variability of UMOD and GREB1L gene variants not associated with the development of SRNS. Infectious etiology of the development of SRNS is assumed. The patient has an intensive development of CKD stage 4, requiring a long-term follow-up in dynamics.

show abstract

“…[10]. Результаты других исследований показывают, что CAKUT-синдром является ведущей причиной развития хронической болезни почек (ХБП) у детей в 42,5% случаев [11,12].…”

unclassified

Features of the course of nephropathies in combination with CAKUT-syndrome in young children

Сафина

Зеленцова

Мышинская

et al. 2020

jour

View full text Add to dashboard Cite

Background. Children with CAKUT-syndrome (congenital malformations of the urinary tract) quickly develop an inflammatory process, which, in combination with dysplasia and/or urodynamic disorders, creates a high risk of developing early chronic renal failure. Purpose of the study: to identify the main factors of the formation, features of the clinical course of nephropathies, morphometric parameters and features of the organ blood flow of the kidneys in young children against the background of CAKUT syndrome. Methods. Study design: It carried out a cohort prospective study. The main group included 26 children with pyelonephritis against the background of CAKUT syndrome at the age from zero to 36 months of life, the comparison group consisted of 29 children with non-obstructive pyelonephritis of the same age. It carried out a comparative analysis of antenatal and postnatal anamnesis, clinical, laboratory and instrumental data in the considered groups of children with nephro-urological pathology. Additionally, it researches the morphometric parameters of the kidneys and the Doppler indices of the renal vessels. The research conducted during 2016-2018. Results. In children with a chronic course of nephropathy in combination with CAKUT-syndrome, possible predictors of an early onset of the disease are: anemia, damage to the urinary tract with pathological urinary syndrome during pregnancy and a combination with defects of this system in the woman herself, and the development of placental insufficiency. In the group with CAKUT syndrome, a decrease in renal filtration function (in 88.5% of children) and persistent trace proteinuria (in 65.4% of children) are recorded by the end of the first year of life. According to ultrasound, in addition to signs of obstructive nephropathy, it recorded decreases in the thickness of the parenchyma and a violation of organ hemodynamics with an increase in the resistance index. In the observed group of children, CAKUT syndrome combined in 100% of cases with connective tissue dysplasia syndrome also. Conclusion. Thus, CAKUT syndrome leads to early realization of nephropathies in children with a rapid decline in renal function.

show abstract

Cakut – Syndrome in Children

Cited by 17 publications

References 14 publications

Untitled

Untitled

Development of steroid-resistant nephrotic syndrome in a child with CAKUT

Features of the course of nephropathies in combination with CAKUT-syndrome in young children

Contact Info

Product

Resources

About