Alport Syndrome Patient in Japan Carries Baby to Term Without Treatment

A recent study reveals that a pregnancy without the need for treatment is possible for women with Alport syndrome, but more research is needed to help predict which patients can successfully carry to term.

The woman, who had autosomal recessive disease, only experienced moderately raised levels of proteins in her urine during the last part of her pregnancy, according to the study, “Alport syndrome and pregnancy: Good obstetric and nephrological outcomes in a pregnant woman with homozygous autosomal recessive Alport syndrome.” It was published in the Journal of Obstetrics and Gynaecology Research.

Researchers at Tokyo Women’s Medical University started treating the woman before she became pregnant. She sought medical attention after a long period of having blood and protein in her urine.

No one in her family had experienced similar symptoms or other features of Alport disease, such as hearing or eye problems. Neither a physical exam nor other lab tests revealed other abnormalities.

A kidney biopsy, examined under a high-resolution microscope, showed signs of Alport syndrome. The woman then agreed to have a genetic test done, as did her parents, who are first cousins.

The test revealed that both parents carried a mutation in one of the copies in the COL4A4 gene. The woman had a mutation in both of her gene copies.

Because the woman was not yet showing signs of kidney disease and wanted to become pregnant, doctors decided to refrain from starting her on treatment.

Before she conceived a year later, her blood pressure was normal, and the blood and protein levels in her urine were moderate.

She was followed by the kidney team, working together with an obstetrician, and had monthly checkups throughout her pregnancy. The first and second trimesters passed without complications, but during her 36th week, her serum albumin suddenly dropped and the amount of protein in her urine increased.

She experienced swelling, but because her blood pressure and kidney function remained normal, doctors decided not to use medications. At 39 weeks, she delivered an apparently healthy baby of normal weight.

A week after delivery, the woman’s blood pressure and kidney function were normal. Urine protein had returned to lower levels, and it continued to decrease, as observed at a checkup two months later.

Reports on pregnancy in women with chronic kidney disease — which have shown that the risk of complications is twofold to fivefold higher — are not uncommon, but studies focused on Alport syndrome are. Eight studies, including this one, have been published, and outcomes have not always been good.

One study suggested that high blood pressure, poor kidney function before pregnancy, increased serum creatinine and protein leakage, and worsening hypertension could be indicators of a potential bad outcome for the mother and child.

Further studies are needed to assess whether the lack of those features might indicate the potential for a positive outcome.