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Abstract: TH-PO168

Chondrodysplasia Punctata in a Baby Born to a Woman with Lupus Nephritis Who Received Belimumab

Session Information

Category: Trainee Case Report

  • 2000 Women's Health and Kidney Diseases


  • Hossain, Mirmohd Mosharaf, Lehigh Valley Health Network , Emmaus, Pennsylvania, United States
  • Osman, Osama A., Lehigh Valley Hospital, Allentown, Pennsylvania, United States
  • Maynard, Sharon E., Lehigh Valley Health Network , Emmaus, Pennsylvania, United States

Belimumab is a human monoclonal antibody that inhibits B-cell activating factor, used to treat extrarenal systemic lupus erythematosus. Experience with belimumab in pregnancy is limited.

Case Description

A 28 year old presented for evaluation of lupus nephritis (LN) in pregnancy. She had been diagnosed with class 4 LN in 2008. She achieved remission after induction with mycophenolate mofetil (MMF). A 2013 relapse was treated with MMF (no response), cyclophosphamide (stopped due to neutropenia), and rituximab, with partial remission. In 2018 she had worsening renal function, and biopsy revealed class 4 LN with crescents, moderate activity, and severe chronicity. She was treated with cyclophosphamide but again developed severe leukopenia. She received no further induction therapy for LN, but was started on belimumab for extrarenal lupus symptoms. Shortly after her 3rd infusion of belimumab, pregnancy was diagnosed. She was maintained on azathioprine, hydroxychloroquine, nifedipine, and low-dose aspirin. Renal function and proteinuria remained stable (serum creatinine 2.0-2.2 mg/dl, proteinuria 3-5 g/day). Complement levels were slightly low, and anti-double stranded DNA antibody titer was negative. Fetal ultrasound at 17 weeks gestation showed absent nose and palate, hemivertebrae, brachycephaly, and shortened long bones. Amniocentesis showed no genetic or chromosomal abnormalities. At 30 weeks, she was delivered due to superimposed preeclampsia. Her infant was diagnosed with chondrodysplasia punctate based on morphologic features.


Chondrodysplasia punctata (CDP) is a skeletal abnormality characterized by premature foci of calcification within the cartilage. Features include proximal shortening of the limbs and stippled epiphyses. CDP can be caused by inborn error of metabolism, disruption of vitamin K metabolism, chromosomal abnormalities, and maternal factors. There are 21 published cases of neonates with CDP born to women with autoimmune diseases, including SLE and Sjögren syndrome. Our patient was exposed to belimumab in early pregnancy. CDP has not previously been reported with belimumab exposure, and limited data do not suggest teratogenicity. It is unknown if our case of CDP was caused by belimumab or maternal lupus. Belimumab should be avoided in pregnancy until more safety data are available.