Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the <i>AGT</i> Gene
Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and lethal disorder that causes stillbirth or early neonatal death. Most of the reported cases are diagnosed postnatally by a histopathological hallmark of the absence or paucity of differentiated proximal tubules in kidneys. Prenatal di...
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MDPI AG
2019-11-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/9/4/185 |
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| author | Gwo-Chin Ma Ying-Chung Chen Wan-Ju Wu Shun-Ping Chang Ting-Yu Chang Wen-Hsiang Lin Ming Chen |
| author_facet | Gwo-Chin Ma Ying-Chung Chen Wan-Ju Wu Shun-Ping Chang Ting-Yu Chang Wen-Hsiang Lin Ming Chen |
| author_sort | Gwo-Chin Ma |
| collection | DOAJ |
| description | Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and lethal disorder that causes stillbirth or early neonatal death. Most of the reported cases are diagnosed postnatally by a histopathological hallmark of the absence or paucity of differentiated proximal tubules in kidneys. Prenatal diagnosis of ARRTD is challenging because only a few fetal features (e.g., oligohydramnios/anhydramnios, anuria) are associated with this condition. In this study, we report a fetus with ARRTD, which showed anhydramnios and invisible urinary bladder since the second trimester, followed by growth restriction and reversed end diastolic flow in the middle cerebral artery (MCA-REDF). No morphological anomaly was detected on the fetal kidneys during an ultrasound scan. The baby died of refractory hypotension the day after their birth. Genetic analysis of genes that are involved in the renin-angiotensin-aldosterone system (RAAS), which are the known genetic causes of ARRTD, identified a novel, biparental-origin homozygous c.857-619_1269+243delinsTTGCCTTGC mutation in the <i>AGT</i> gene. The mutation is considered as pathogenic because it is cosegregated with ARRTD and detected in other unrelated ARRTD families. Our findings link the fetal ultrasound manifestations to the ARRTD, highlighting clues that are useful for prenatal diagnosis, which warrants confirmatory genotyping of the RAAS genes including oligohydramnios/anhydramnios, anuria (absent filling of a fetal urinary bladder), MCA-REDF, and a morphologically normal kidney. |
| first_indexed | 2024-04-13T07:02:59Z |
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| id | doaj.art-46213eb685624e1abec4ee6d571793b2 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-04-13T07:02:59Z |
| publishDate | 2019-11-01 |
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| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-46213eb685624e1abec4ee6d571793b22022-12-22T02:57:04ZengMDPI AGDiagnostics2075-44182019-11-019418510.3390/diagnostics9040185diagnostics9040185Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the <i>AGT</i> GeneGwo-Chin Ma0Ying-Chung Chen1Wan-Ju Wu2Shun-Ping Chang3Ting-Yu Chang4Wen-Hsiang Lin5Ming Chen6Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, TaiwanAutosomal recessive renal tubular dysgenesis (ARRTD) is a rare and lethal disorder that causes stillbirth or early neonatal death. Most of the reported cases are diagnosed postnatally by a histopathological hallmark of the absence or paucity of differentiated proximal tubules in kidneys. Prenatal diagnosis of ARRTD is challenging because only a few fetal features (e.g., oligohydramnios/anhydramnios, anuria) are associated with this condition. In this study, we report a fetus with ARRTD, which showed anhydramnios and invisible urinary bladder since the second trimester, followed by growth restriction and reversed end diastolic flow in the middle cerebral artery (MCA-REDF). No morphological anomaly was detected on the fetal kidneys during an ultrasound scan. The baby died of refractory hypotension the day after their birth. Genetic analysis of genes that are involved in the renin-angiotensin-aldosterone system (RAAS), which are the known genetic causes of ARRTD, identified a novel, biparental-origin homozygous c.857-619_1269+243delinsTTGCCTTGC mutation in the <i>AGT</i> gene. The mutation is considered as pathogenic because it is cosegregated with ARRTD and detected in other unrelated ARRTD families. Our findings link the fetal ultrasound manifestations to the ARRTD, highlighting clues that are useful for prenatal diagnosis, which warrants confirmatory genotyping of the RAAS genes including oligohydramnios/anhydramnios, anuria (absent filling of a fetal urinary bladder), MCA-REDF, and a morphologically normal kidney.https://www.mdpi.com/2075-4418/9/4/185arrtdoligohydramniosanhydramniosmca-redfautosomal recessiverenin-angiotensin systemprenatal diagnosis |
| spellingShingle | Gwo-Chin Ma Ying-Chung Chen Wan-Ju Wu Shun-Ping Chang Ting-Yu Chang Wen-Hsiang Lin Ming Chen Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the <i>AGT</i> Gene Diagnostics arrtd oligohydramnios anhydramnios mca-redf autosomal recessive renin-angiotensin system prenatal diagnosis |
| title | Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the <i>AGT</i> Gene |
| title_full | Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the <i>AGT</i> Gene |
| title_fullStr | Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the <i>AGT</i> Gene |
| title_full_unstemmed | Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the <i>AGT</i> Gene |
| title_short | Prenatal Diagnosis of Autosomal Recessive Renal Tubular Dysgenesis with Anhydramnios Caused by a Mutation in the <i>AGT</i> Gene |
| title_sort | prenatal diagnosis of autosomal recessive renal tubular dysgenesis with anhydramnios caused by a mutation in the i agt i gene |
| topic | arrtd oligohydramnios anhydramnios mca-redf autosomal recessive renin-angiotensin system prenatal diagnosis |
| url | https://www.mdpi.com/2075-4418/9/4/185 |
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