Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy
Background: Generalised arterial calcification of infancy (GACI) is a rare disorder characterised by the deposition of hydroxyapatite crystals within the vessel walls. It is associated with a high mortality rate. Bisphosphonates have been used with some success in the treatment of GACI. However, the...
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Elsevier
2020-06-01
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| Series: | Bone Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352187220300401 |
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| author | Neha Agarwal Umber Agarwal Zarko Alfirevic Joyce Lim Musa Kaleem Caren Landes M. Zulf Mughal R. Ramakrishnan |
| author_facet | Neha Agarwal Umber Agarwal Zarko Alfirevic Joyce Lim Musa Kaleem Caren Landes M. Zulf Mughal R. Ramakrishnan |
| author_sort | Neha Agarwal |
| collection | DOAJ |
| description | Background: Generalised arterial calcification of infancy (GACI) is a rare disorder characterised by the deposition of hydroxyapatite crystals within the vessel walls. It is associated with a high mortality rate. Bisphosphonates have been used with some success in the treatment of GACI. However, there is a paucity of data on the antenatal use of bisphosphonates for GACI. In this paper, we report development of the skeletal changes suggestive of hypophosphatasia (HPP) in an infant with GACI, whose mother was treated with etidronate during pregnancy. Case report: A Caucasian infant boy had a suspected antenatal diagnosis of GACI based on the findings suggestive of calcification of the annulus of the tricuspid valve and wall of the right ventricular (RV) outflow tract and main pulmonary artery on foetal echocardiography and the genetic analysis which showed a pathogenic heterozygous mutation in ABCC6. Based on these findings, mother was started on etidronate treatment from 26 weeks of gestation. A healthy male baby was delivered at 38 weeks of gestation. Initial postnatal echocardiogram on day 1 of life was normal with good biventricular function; subtle changes suggestive of microcalcifications were detected on the CT angiography. Serum calcium, phosphate, alkaline phosphatase and renal profile were normal. Further, the serum inorganic pyrophosphate (PPi) level was significantly low. Skeletal changes suggestive of HPP were seen on the radiographs. The baby developed cardiac dysfunction on day 4 of life with evidence of ischaemic changes on electrocardiogram (ECG).Treatment with etidronate was started in view of probable evolving coronary calcifications. Despite treatment with cardiac supportive measures and bisphosphonate, he succumbed to death in the third week of life. Discussion: We believe, this is the first report of skeletal changes suggestive of HPP, arising secondary to antenatal etidronate (first generation bisphosphonate) used for the treatment of suspected GACI due to a heterozygous ABCC6 mutation. |
| first_indexed | 2024-12-21T15:28:04Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 2352-1872 |
| language | English |
| last_indexed | 2024-12-21T15:28:04Z |
| publishDate | 2020-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Bone Reports |
| spelling | doaj.art-468211443a98465b90e9fb5bdf6fde7a2022-12-21T18:58:51ZengElsevierBone Reports2352-18722020-06-0112100280Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancyNeha Agarwal0Umber Agarwal1Zarko Alfirevic2Joyce Lim3Musa Kaleem4Caren Landes5M. Zulf Mughal6R. Ramakrishnan7Department of Paediatric Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool, UKDepartment of Obstetrics and Maternal-Fetal Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UKDepartment of Women's and Children's Health, Obstetrics, Maternal & Fetal Medicine, University of Liverpool and Liverpool Women's Hospital NHS Foundation Trust, Liverpool, UKDepartment of Paediatric Cardiology, Alder Hey Children's NHS Foundation Trust, Liverpool, UKDepartment of Paediatric Radiology, Alder Hey Children's NHS Foundation Trust, Liverpool, UKDepartment of Paediatric Radiology, Alder Hey Children's NHS Foundation Trust, Liverpool, UKDepartment of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Oxford Road, Manchester, UKDepartment of Paediatric Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool, UK; Corresponding author at: Department of Paediatric Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool L12 2AP, UK.Background: Generalised arterial calcification of infancy (GACI) is a rare disorder characterised by the deposition of hydroxyapatite crystals within the vessel walls. It is associated with a high mortality rate. Bisphosphonates have been used with some success in the treatment of GACI. However, there is a paucity of data on the antenatal use of bisphosphonates for GACI. In this paper, we report development of the skeletal changes suggestive of hypophosphatasia (HPP) in an infant with GACI, whose mother was treated with etidronate during pregnancy. Case report: A Caucasian infant boy had a suspected antenatal diagnosis of GACI based on the findings suggestive of calcification of the annulus of the tricuspid valve and wall of the right ventricular (RV) outflow tract and main pulmonary artery on foetal echocardiography and the genetic analysis which showed a pathogenic heterozygous mutation in ABCC6. Based on these findings, mother was started on etidronate treatment from 26 weeks of gestation. A healthy male baby was delivered at 38 weeks of gestation. Initial postnatal echocardiogram on day 1 of life was normal with good biventricular function; subtle changes suggestive of microcalcifications were detected on the CT angiography. Serum calcium, phosphate, alkaline phosphatase and renal profile were normal. Further, the serum inorganic pyrophosphate (PPi) level was significantly low. Skeletal changes suggestive of HPP were seen on the radiographs. The baby developed cardiac dysfunction on day 4 of life with evidence of ischaemic changes on electrocardiogram (ECG).Treatment with etidronate was started in view of probable evolving coronary calcifications. Despite treatment with cardiac supportive measures and bisphosphonate, he succumbed to death in the third week of life. Discussion: We believe, this is the first report of skeletal changes suggestive of HPP, arising secondary to antenatal etidronate (first generation bisphosphonate) used for the treatment of suspected GACI due to a heterozygous ABCC6 mutation.http://www.sciencedirect.com/science/article/pii/S2352187220300401AntenatalBisphosphonatesGACI |
| spellingShingle | Neha Agarwal Umber Agarwal Zarko Alfirevic Joyce Lim Musa Kaleem Caren Landes M. Zulf Mughal R. Ramakrishnan Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy Bone Reports Antenatal Bisphosphonates GACI |
| title | Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy |
| title_full | Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy |
| title_fullStr | Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy |
| title_full_unstemmed | Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy |
| title_short | Skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy |
| title_sort | skeletal abnormalities secondary to antenatal etidronate treatment for suspected generalised arterial calcification of infancy |
| topic | Antenatal Bisphosphonates GACI |
| url | http://www.sciencedirect.com/science/article/pii/S2352187220300401 |
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