Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project

Huang, Zifang; Shen, Qian; Wu, Bingbing; Wang, Huijun; Dong, Xinran; Lu, Yulan; Cheng, Guoqiang; Wang, Laishuan; Lü, Wei; Chen, Liping; Kang, Wenqing; Li, Long; Pan, Xinnian; Wei, Qiufen; Zhuang, Deyi; Chen, Dongmei; Yin, Zhaoqing; Yang, Ling; Ni, Qi; Liu, Renchao; Li, Gang; Zhang, Ping; Qian, Yanyan; Peng, Xiaomin; Wang, Yao; Cao, Yun; Zhou, Wenhao; Xu, Hong; Hu, Liyuan; Yang, Lin

doi:10.1016/j.ekir.2023.08.005

Kidney International Reports

2023

DOI: 10.1016/j.ekir.2023.08.005

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Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project

Zifang Huang¹,

Qian Shen²,

Bingbing Wu³

et al.

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2024

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Cited by 3 publications

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Vitamin A Deficiency Disturbs Ret Expression and Induces Urinary Tract Developmental Abnormalities in Mice

Yu,

Ju,

et al. 2024

Am J Nephrol

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Introduction: Moderate vitamin A levels during pregnancy are strongly related to normal embryonic development in both animal models and population studies. Abnormal development of urinary tract system is linked to either an excess or a shortage of vitamin A. The relationships among maternal vitamin A deficiency prior to conception, moderate vitamin A supplementation during pregnancy, and abnormal urinary system development in offspring are unclear. Methods: By creating preconception and preconception + pregnancy vitamin A insufficiency mouse models, we investigated whether moderate vitamin A treatment during pregnancy may reduce the prevalence of CAKUT and increase distant vitamin A levels in offspring, as well as any potential pathways involved. Results: We effectively established a prepregnancy vitamin A-deficient mouse model by providing a particular diet with or without vitamin A for four weeks. The offspring of the hypovitaminosis A model group presented a greater proportion of neonatal urinary tract developmental malformations. Abnormalities in ureteral bud emergence and key molecules during renal development, such as p-Plcγ and Ret, may be the primary causes of offspring development of CAKUT as a result of mothers’ hypovitaminosis A. Normal vitamin A diets, on the other hand, may help mitigate the teratogenic consequences of prepregnancy hypovitaminosis A, as well as defects produced by ureteral budding and major molecular changes. Conclusion: In contrast, the administration of normal vitamin A feeds during pregnancy may ameliorate the teratogenic effects of prepregnancy hypovitaminosis A to a certain extent and may also ameliorate the abnormalities associated with ureteral budding and key molecular changes.

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Vitamin A Deficiency Disturbs Ret Expression and Induces Urinary Tract Developmental Abnormalities in Mice

Yu,

Ju,

et al. 2024

Am J Nephrol

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Prospective observational study on clinical profile of congenital anomalies of kidney and urinary tract (CAKUT) in children in central India: A study protocol

Kommareddy,

Vagha

2024

F1000Res

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Background Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of structural abnormalities affecting these vital organs, frequently leading to chronic kidney disease in children. This study aims to comprehensively understand the clinical profile of CAKUT in children in Central India, an area with unique socio-demographic characteristics and limited prior research on this topic. Methods A prospective observational study will be conducted over three years in the pediatric department of AVBRH, a tertiary healthcare center in Central India. Data were collected through interviews with parents or guardians of children up to 18 admitted to the hospital. Clinical symptoms, prenatal history, physical examinations, and diagnostic investigations were meticulously documented. Expected outcome The study is expected to reveal the prevalence and clinical profile of CAKUT in Central Indian children. Anticipated outcomes include insights into anomalies, clinical symptoms, and potential correlations with factors like prenatal care and consanguineous marriages. Diagnostic investigations will help assess the severity of renal impairment. The results may also uncover regional variations and have implications for public health initiatives aimed at early intervention and improved patient care. However, these are preliminary expectations that are subject to confirmation through the completion of the study.

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Prenatal Diagnosis of Reno-Urinary Malformations in a Tertiary Center of Republic of Moldavia

Roller,

Ciuntu,

Țarcă

et al. 2024

Diagnostics

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Malformative uropathy in children is one of the most common pathological conditions, with an incidence of 5–14% in newborns. Recent research shows that even in the current conditions, they are often diagnosed only in the advanced stages, when Chronic Kidney Disease is already affirming. This study’s objective is to identify urinary tract anomalies, including malformative uropathies in the prenatal stage, using imaging techniques, namely ultrasound of the pregnant uterus. Using prenatal ultrasonography of the pregnant uterus and postnatal clinical and paraclinical examination, we prospectively evaluated a cohort of fifty children with pyelectasia. We describe the demographic and pathological characteristics of patients diagnosed with renal–urinary abnormalities, as well as their postnatal management. A prenatal diagnosis made during the first 15 to 22 weeks of pregnancy enables the evaluation of early malformative uropathies and the determination of the best time to operate in order to minimize complications. When prenatal ultrasonography, fetal karyotype, tissue sample, and embryonic appendages work together, problems may be partially or entirely revealed by these methods due to mistakes made in imaging examinations. In the case of a pregnancy with an antenatal malformation detected, it is necessary for the delivery to take place in a clinic that can provide favorable services for the survival and investigation of the child born with malformative abnormalities.

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Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project

Cited by 3 publications

References 50 publications

Vitamin A Deficiency Disturbs Ret Expression and Induces Urinary Tract Developmental Abnormalities in Mice

Vitamin A Deficiency Disturbs Ret Expression and Induces Urinary Tract Developmental Abnormalities in Mice

Prospective observational study on clinical profile of congenital anomalies of kidney and urinary tract (CAKUT) in children in central India: A study protocol

Prenatal Diagnosis of Reno-Urinary Malformations in a Tertiary Center of Republic of Moldavia

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