Comprehensive Metabolic Signature of Renal Dysplasia in Children. A Multiplatform Metabolomics Concept [PDF]
Frontiers in Molecular Biosciences, 2021 Renal dysplasia is a severe congenital abnormality of the kidney parenchyma, which is an important cause of end-stage renal failure in childhood and early adulthood. The diagnosis of renal dysplasia relies on prenatal or postnatal ultrasounds as children
Szymon Macioszek +9 more
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Quercetin treatment reduces the severity of renal dysplasia in a beta-catenin dependent manner. [PDF]
PLoS ONE, 2020 Renal dysplasia, the major cause of childhood renal failure, is characterized by defective branching morphogenesis and nephrogenesis. Beta-catenin, a transcription factor and cell adhesion molecule, is markedly increased in the nucleus of kidney cells in
Joanna Cunanan +7 more
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Case report: BCL-2 and CD31 immunoexpression related to clinical and histopathological evaluation of renal dysplasia in a Welsh Corgi Puppy [PDF]
Frontiers in Veterinary Science, 2022 A case of renal dysplasia (RD) in the Welsh Corgi dog has been reported. Clinically, the affected 3-month-old, female, Welsh Corgi dog showed unclear symptoms of chronic kidney disease.
Trung Quang Le +6 more
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Living‐donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome [PDF]
IJU Case Reports, 2020 Introduction Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an autosomal dominant rare genetic disease. Some patients with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome may present with renal ...
Nobutaka Nishimura +9 more
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Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site [PDF]
Frontiers in Endocrinology, 2023 The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the GATA3 gene.
Catarina I. Gonçalves +4 more
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Renal dysplasia in the neonate. [PDF]
Curr Opin Pediatr, 2016 Renal dysplasia is classically described as a developmental disorder whereby the kidneys fail to undergo appropriate differentiation, resulting in the presence of malformed renal tissue elements. It is the commonest cause of chronic kidney disease and renal failure in the neonate.
Phua YL, Ho J.
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A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation [PDF]
Clinical Case Reports, 2020 Autosomal dominant hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome are typically diagnosed by manifestations of the three features with a positive family history.
Haruka Kishi +15 more
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HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report [PDF]
Clinical Case ReportsThis case report describes a 20‐year‐old female MODY5 patient. Genetic testing revealed a heterozygous missense mutation c.452C>G (p.R151G) in HNF1β, identical to the mutation carried by her diabetic mother.
Xingfa Han +5 more
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Renal fibromuscular dysplasia [PDF]
BMJ Case Reports, 2015 A 35-year-old woman was diagnosed with hypertension refractory to three antihypertensive medications. There was a suspicion for renovascular hypertension, and a contrast-enhanced CT scan was performed, which demonstrated alternating stenoses and dilations of the patient's bilateral renal arteries (figure 1, arrow showing the right renal artery).
Joel, Woodley-Cook +2 more
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Archives of Pathology & Laboratory Medicine, 2015 Renal dysplasia is an aberrant developmental disease usually diagnosed during the perinatal and childhood years. Prevalence is estimated at 0.1% of infants (via ultrasound screening) and 4% of fetuses and infants (via autopsy study). Occurrences may be combined with abnormalities in the collecting system or associated with complex syndromes ...
Rui-Yun, Chen, Han, Chang
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