Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports

Medicine · 5 authors, 2 centres

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TL;DR

Two pregnant women with autosomal recessive Alport syndrome carrying novel compound heterozygous COL4A3 mutations (c.1315 G>T and c.4847 G>A) developed progressive proteinuria during gestation but achieved favorable pregnancy outcomes following multidisciplinary management and cesarean delivery at 36 to 37 weeks.

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Two case reports describe pregnant women diagnosed with autosomal recessive Alport syndrome through Sanger sequencing, which revealed novel compound heterozygous mutations [c.1315 G>T (p.G439C) and c.4847 G>A (p.C1616Y)] in the COL4A3 gene, confirmed by renal biopsy. Pregnancy was terminated by cesarean section at 36 to 37 weeks, and neonatal weights and Apgar scores were normal. As a two-case report, these findings cannot be generalized, and the authors note that larger studies are needed to develop evidence-based monitoring guidelines.

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case_report

SPECIALTY

nephrology

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ORIGINAL PAPER

PMC10659596

Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports

Medicine

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ABSTRACT

Rationale: Autosomal recessive Alport syndrome (ARAS) is an hereditary heterogeneous disease that poses a serious risk to pregnant women. Patient concerns: We reported 2 cases of pregnancy with progressive proteinuria. The case 1 was a 21-year-old woman with 24-h proteinuria increased from 2.03 to 11.72 g at 13 to 35 weeks of gestation, and the case 2 was a 28-year-old woman with 24-h proteinuria increased from 2.10 to 9.32 g at 8 to 36 weeks of gestation. In advanced stage of pregnancy, the fetal development was smaller than the gestational age. Diagnoses: Sanger sequencing showed that novel compound heterozygous mutations [c.1315 G>T (p.G439C) and c.4847 G>A (p.C1616Y)] of the collagen type IV alpha 3 chain ( COL4A3 ) gene were found in the 2 cases. Renal puncture pathology confirmed the diagnosis of ARAS. Interventions: The 2 cases were treated with albumin, compounded amino acids, calcium, vitamin D, and low molecular weight heparin in addition to conventional treatment during pregnancy. Pregnancy was terminated by cesarean section at 36 to 37 weeks of gestation. After delivery, the patients were treated with Losartan for anti-proteinuric therapy for 1 year. Outcomes: The neonatal weights and Apgar scores were normal. The patients recovered well and 24-h proteinuria decreased to pre-pregnancy level. Lessons: When pregnant women present with a persistent increasing proteinuria, ARAS needs to be considered. Sanger sequencing is useful to assist in the diagnosis of ARAS. Multidisciplinary treatments from nephrologists and gynecologists are needed to ensure the safety of pregnancy and the fetus.

CITATION EXPORT

Xiaoli Gao, Meilu Li, Kan Wang et al.. Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports. Medicine. (2023). https://doi.org/10.1097/MD.0000000000036057

AUTHORS

5 · 2 CENTRES

Xiaoli Gao, Meilu Li, Kan Wang, Zengyan Li, Cha Han

a Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China
b Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.