P1029
BONE MINERALIZATION IN PARENTERAL NUTRITION DEPENDENT CHILDREN WITH MICROVILLOUS INCLUSION DISEASE: A RETROSPECTIVE COHORT STUDY
R. Salman1,*, B. Murbati2, H. Obaidat3, E. Elyyan2, M. Bitzan4, M. Zulficar5, A. Kader2
1pediatrics, Al Qassimi Women and Children's Hospital, Sharjah, 2pediatric gastroenterology, 3clinical pharmacist, 4pediatric nephrology, 5pediatric endocrinology, Al Jalila Children's Hospital, Dubai, United Arab Emirates
Rationale: Microvillous inclusion disease (MVID) is a rare genetic disorder with intestinal failure requiring parenteral nutrition (PN). Long term PN is associated with several complications including poor bone mineralization (BM). Data on bone health of MVID children is scarce.
A study which included congenital enteropathy reported significantly lower BMD values than those with Short bowel syndrome and Congential intestinal pseudo-obstruction. 1
Objective is to assess BM in a cohort of children with MVID over a 5-year period and identify possible factors that may adversely affect BM
Methods: Study design: Retrospective cohort study. Data collected manually from electronic medical records.
Inclusion criteria: Children over 4 years with a genetically confirmed diagnosis of MVID.
Exclusion criteria: Primary skeletal anomalies and lack of data or follow up
Primary Outcome: Bone mineralization status
Secondary Outcome: Renal tubular loss of bone minerals and effect on serum bone profile.
Results: From January 1, 2020, to February 28, 2025, five children of Arab-Emirati ethnicity with MVID due to mutations in the MYO5B gene were identified. Four of these children met the inclusion criteria. All four children had been receiving daily cyclic PN since the neonatal period.
The table provides a Summary of relevant baseline features and bone parameters.
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Conclusion: The main findings include reduced bone mineral density, delayed bone age, and short stature, associated with hypophosphatemia and hypercalciuria. It is hypothesized that impaired bone mineralization can be due to renal phosphate and calcium losses resulting from a secondary proximal tubulopathy. The findings should be validated in larger, multicenter studies using standardized treatment protocols and DEXA scans.
References: https://doi.org/10.1016/j.clnu.2020.09.014
Disclosure of Interest: None declared