Effect of Hydrocortisone on Angiotensinogen (AGT) Mutation–Causing Autosomal Recessive Renal Tubular Dysgenesis

Tseng, Min‐Jen; Huang, Shih‐Ming; Konrad, Martin; Huang, Jing-Long; Shaw, Steven W.; Tian, Ya-Chung; Chueh, Ho-Yen; Fan, Wen‐Lang; Wu, Tai-Wei; Ding, Jhao-Jhuang; Chiang, Ming-Chou; Lin, Shih‐Hua

doi:10.3390/cells10040782

Cited by 4 publications

(2 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A prenatal genetic diagnosis allows both the clinician and the family to make decisions using more definitive information. In the future, prenatal diagnosis may allow therapeutic interventions in some selected cases [16]. This case study describes the first known case of in utero confirmation of ARRTD, using targeted genetic testing on CVS at 25 weeks' gestation to identify a homozygous variant in the AGT gene.…”

Section: Color Version Available Onlinementioning

confidence: 99%

Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting

et al. 2023

View full text Add to dashboard Cite

Introduction: Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare disorder of renal tubular development. ARRTD is a severe condition with high risk of fetal demise and early neonatal death with only limited case reports of survival over two years [1]. Prenatal diagnosis of ARRTD is challenging and diagnosis has only previously been confirmed after postnatal or post-mortem investigation. Case: To the best of our knowledge, we describe the first reported case of utilising targeted genetic testing on the chorionic villous sample (CVS) to identify a homozygous variant in the angiotensinogen (AGT) gene. Discussion: By substantiating the diagnosis of ARRTD prenatally we allow timely and appropriate counselling during pregnancy.

show abstract

Section: Color Version Available Onlinementioning

confidence: 99%

Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting

et al. 2023

View full text Add to dashboard Cite

show abstract

“…6 Genetic mutations in AGT also lead to susceptibility to essential hypertension, and renal tubular dysgenesis, respectively. 7,8…”

Section: Introductionmentioning

confidence: 99%

Fluorescence detection of the human angiotensinogen protein by the G-quadruplex aptamer

Jiang

Juhas

et al. 2022

Analyst

View full text Add to dashboard Cite

show abstract

Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations

Liu,

Luo,

et al. 2024

Clinical Dysmorphology

View full text Add to dashboard Cite

Objective This study aimed to elucidate the fetal ultrasound characteristics, pathology, and molecular genetic etiology of autosomal recessive tubular dysplasia. Methods This retrospective study examined four fetuses with autosomal recessive tubular dysplasia (ARRTD) from two pregnancies, utilizing ultrasound evaluations and fetal renal pathology. Whole-exome sequencing-copy number variation analysis was employed to identify gene mutations. Results We present for the first time renal vascular resistance in fetuses with ARRTD, characterized by increased renal blood flow resistance and reversed diastolic blood flow, indicating fetal renal insufficiency. This is the first report of a nonsense mutation (C.571C>T) found in the angiotensinogen gene. Conclusion ARRTD disease should be strongly suspected when ultrasound examinations reveal increased renal blood flow resistance, oligohydramnios, and inadequate bladder filling, regardless of the presence of renal abnormalities.

show abstract

Effect of Hydrocortisone on Angiotensinogen (AGT) Mutation–Causing Autosomal Recessive Renal Tubular Dysgenesis

Cited by 4 publications

References 34 publications

Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting

Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting

Fluorescence detection of the human angiotensinogen protein by the G-quadruplex aptamer

Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations

Contact Info

Product

Resources

About