Alport Syndrome Is Potential Risk Factor for Pregnancy-Related Complications, Study Finds

Alport syndrome is a potential risk factor for pregnancy-related complications, a review indicates.

Two implications are that women with the disease should receive counseling before they conceive and doctors should follow them closely during their pregnancy, the researchers said.

The study, “Alport syndrome and pregnancy: a case series and literature review,” was published in the Archives of Gynecology and Obstetrics.

Alport syndrome is a rare genetic disorder that occurs due to an abnormality in genes that code for a protein called collagen IV. These defects lead to inadequate forms and functions of different structures, including the glomeruli, a tuft of small blood vessels in the kidney. Glomeruli work to filter the blood, removing unnecessary components.

The main features of Alport syndrome consist of microscopic hematuria (blood cells in urine), followed by the development of proteinuria (protein in urine) and end-stage renal disease (ESRD).

Pregnancy in women with Alport syndrome could pose risks to the mother and fetus. Unfortunately, the number of pregnancies reported in studies of Alport has been limited, and data on mother and fetus outcomes remain inconclusive.

Therefore, researchers collected data on seven pregnancies of six patients with Alport syndrome. A multidisciplinary team of nephrologists (kidney specialists) and gynecologists monitored the women during the pregnancies. The patients were followed for at least three  years.

There was one patient with isolated microscopic hematuria at conception. She experienced an uneventful pregnancy course.

The other women displayed mild proteinuria at conception, which caused a range of complications. Proteinuria significantly worsened during the last trimester, reaching very high levels in five out of the six pregnancies.

These high levels of proteinuria were associated with hospitalizations and early delivery of babies. In fact, early delivery with cesarean section was essential in six patients due to worsening of proteinuria, anasarca (widespread swelling of the skin), and pre-eclampsia (high blood pressure). Most of the newborns had a low birth weight.

There were two patients who had high blood pressure at conception and had twin pregnancies. These patients developed pre-eclampsia and renal function deterioration, even after delivery.

One patient had renal dysfunction before becoming pregnant, and she reached end-stage renal disease.

However, in patients whose renal function and blood pressure remained normal, proteinuria improved after delivery, and there were no signs of disease progression.

“Our observations suggest that Alport syndrome should be considered a potential risk factor for pregnancy in proteinuric patients due to the development of pre-eclampsia, renal function deterioration, and/or full-blown nephrotic syndrome that results in anasarca, slowing of fetal growth and pre-term delivery,” the researchers wrote.

They added that “all women with Alport syndrome should receive pre-conceptional counseling and be kept in close follow-up during pregnancy.”