Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal‐recessive hypophosphataemic rickets type 2
Authors' conclusion
ARHR2 represents one manifestation of ENPP1 deficiency that usually manifests later in life than GACI. The history of calcifications or comorbidities that might be associated with GACI will facilitate the diagnosis in patients with ARHR2, and patients receiving calcitriol and phosphate medication should be carefully monitored for signs of calcification or intimal proliferation.
Study context
- Population
- Paediatric patients with ARHR2 due to ENPP1 deficiency and a diagnosis of generalized arterial calcification of infancy (GACI) or GACI-related findings, 9 centres in Turkey13 families
- Participants
- 18 patients
- Outcome
- Clinical characteristics at diagnosis
- Follow-up
- At diagnosis
Methodological detailsmulticentre, nationwide, paediatric, Clinical, biochemical and genetic characteristics retrospectively retrieved
- Multicentre
- Nationwide
- Paediatric
- Clinical, biochemical and genetic characteristics retrospectively retrieved
Main finding
As reported in the abstract
- Females
- 12 (66.7%)
- Age at diagnosis, mean ± SD (range), years
- 4.2 ± 2.2 (1.6-9)
- Limb deformities on admission
- 66.6%
- Short stature on admission
- 44.4%
- Height SD at diagnosis, mean
- −2.2 ± 1.3
- ENPP1 variation confirmed by genetic analysis
- 15
- Diagnosed with GACI in neonatal period and treated with bisphosphonates
- 5
- Hearing loss
- 3
- Cervical fusion
- 2
Observational data: associations, not effects.
Safety
Complications after treatment of hypophosphataemic rickets
- Developed calcification
- 1
- Developed intimal proliferation
- 1
Original publication
Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal‐recessive hypophosphataemic rickets type 2. Clin Endocrinol (Oxf). Published 7 February 2024. doi:10.
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