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Page 1
RAAS-deficient organoids indicate delayed angiogenesis as a possible cause for autosomal recessive renal tubular dysgenesis.
Pode-Shakked N, Slack M, Sundaram N, Schreiber R, McCracken KW, Dekel B, Helmrath M, Kopan R. Pode-Shakked N, et al. Nat Commun. 2023 Dec 9;14(1):8159. doi: 10.1038/s41467-023-43795-x. Nat Commun. 2023. PMID: 38071212 Free PMC article.
Autosomal Recessive Renal Tubular Dysgenesis (AR-RTD) is a fatal genetic disorder characterized by complete absence or severe depletion of proximal tubules (PT) in patients harboring pathogenic variants in genes involved in the Renin-Angiotensin-Aldosterone S …
Autosomal Recessive Renal Tubular Dysgenesis (AR-RTD) is a fatal genetic disorder characterized by complete absence or …
Diagnosis and Treatment of Inherited Renal Tubular Dysgenesis Caused by ACE Gene Mutation: A Single-Center Experience.
Xu X, Xie Q, Xu Z, Xu X. Xu X, et al. Fetal Diagn Ther. 2025;52(5):483-488. doi: 10.1159/000545879. Epub 2025 Apr 17. Fetal Diagn Ther. 2025. PMID: 40245857
INTRODUCTION: Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and severe condition, and current methods for early diagnosis and treatment of this disease remain unclear. ...
INTRODUCTION: Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and severe condition, and current methods …
Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.
Vincent KM, Alrajhi A, Lazier J, Bonin B, Lawrence S, Weiler G, Armour CM. Vincent KM, et al. Mol Genet Genomic Med. 2022 May;10(5):e1920. doi: 10.1002/mgg3.1920. Epub 2022 Mar 14. Mol Genet Genomic Med. 2022. PMID: 35286024 Free PMC article. Review.
BACKGROUND: Autosomal-recessive renal tubular dysgenesis (AR-RTD) is a rare genetic disorder caused by defects in the renin-angiotensin system that manifests as fetal anuria leading to oligohydramnios and Potter sequence. ...
BACKGROUND: Autosomal-recessive renal tubular dysgenesis (AR-RTD) is a rare genetic disorder caused by defects in the r …
Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis.
Gazeu A, Collardeau-Frachon S. Gazeu A, et al. Pediatr Dev Pathol. 2024 Sep-Oct;27(5):459-493. doi: 10.1177/10935266241239241. Epub 2024 Sep 13. Pediatr Dev Pathol. 2024. PMID: 39270126 Review.
This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, p …
This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dy …
Management of a Preterm Infant with Renal Tubular Dysgenesis: A Case Report and Review of the Literature.
Kondoh T, Kawai Y, Matsumoto Y, Kumagai N, Miyata M, Tanaka K, Hibino S, Fujita N, Ikezumi Y. Kondoh T, et al. Tohoku J Exp Med. 2020 Sep;252(1):9-14. doi: 10.1620/tjem.252.9. Tohoku J Exp Med. 2020. PMID: 32814721 Free article. Review.
Renal tubular dysgenesis (RTD) is the absence or poor development of the renal proximal tubules caused by gene mutations in the renin-angiotensin system. ...
Renal tubular dysgenesis (RTD) is the absence or poor development of the renal proximal tubules caused by gene mutation …
Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies.
Hertenstein CB, Miller KA, Estroff JA, Blakemore KJ. Hertenstein CB, et al. Prenat Diagn. 2024 Feb;44(2):222-236. doi: 10.1002/pd.6517. Epub 2024 Jan 27. Prenat Diagn. 2024. PMID: 38279830 Review.
With rapid gene discovery, alongside advances in prenatal imaging and fetal phenotyping, the growing list of single gene diagnoses includes ciliopathies, overgrowth syndromes, and renal tubular dysgenesis. At present, microarray and gene panels or whole exome …
With rapid gene discovery, alongside advances in prenatal imaging and fetal phenotyping, the growing list of single gene diagnoses includes …
Late Preterm Infant With Postnatal Diagnosis of Renal Tubular Dysgenesis.
Gaffar S, Arora P, Ramanathan R. Gaffar S, et al. J Investig Med High Impact Case Rep. 2022 Jan-Dec;10:23247096221111775. doi: 10.1177/23247096221111775. J Investig Med High Impact Case Rep. 2022. PMID: 35848000 Free PMC article.
Whole-exome sequencing showed 2 pathologic mutations in the angiotensin-converting enzyme (ACE) gene, suggesting a diagnosis of renal tubular dysgenesis (RTD). Renal tubular dysgenesis is usually a fatal condition affecting the renin-angi …
Whole-exome sequencing showed 2 pathologic mutations in the angiotensin-converting enzyme (ACE) gene, suggesting a diagnosis of renal …
Diagnostic Challenges of Inherited Renal Tubular Dysgenesis.
Wang MJ, Cano-Guerra CA, Roberts DJ, Shook L, Bernstein SN, Victoria T, Fadakar PK, Aurora M, Skotko BG. Wang MJ, et al. Am J Med Genet A. 2025 Nov;197(11):e64155. doi: 10.1002/ajmg.a.64155. Epub 2025 Jun 16. Am J Med Genet A. 2025. PMID: 40519134
We present a case of renal tubular dysgenesis, a rare etiology of antenatal oligohydramnios and postnatal intrinsic renal failure in a premature female neonate with prenatal oligohydramnios and growth restriction associated with a previously unassociated cong …
We present a case of renal tubular dysgenesis, a rare etiology of antenatal oligohydramnios and postnatal intrinsic ren …
Effect of Hydrocortisone on Angiotensinogen (AGT) Mutation-Causing Autosomal Recessive Renal Tubular Dysgenesis.
Tseng MH, Huang SM, Konrad M, Huang JL, Shaw SW, Tian YC, Chueh HY, Fan WL, Wu TW, Ding JJ, Chiang MC, Lin SH. Tseng MH, et al. Cells. 2021 Apr 1;10(4):782. doi: 10.3390/cells10040782. Cells. 2021. PMID: 33916187 Free PMC article.
We has identified a founder homozygous E3_E4 del: 2870 bp deletion + 9 bp insertion in AGT gene encoding angiotensinogen responsible for autosomal recessive renal tubular dysgenesis (ARRTD) with nearly-fatal outcome. High-dose hydrocortisone therapy successfu …
We has identified a founder homozygous E3_E4 del: 2870 bp deletion + 9 bp insertion in AGT gene encoding angiotensinogen responsible for aut …
28 results