Health Condition 1: Q431- Hirschsprungs disease
Conditions
Interventions
None listed
Sponsors
Not funded
Eligibility
Inclusion criteria
Inclusion criteria: Mothers of infants diagnosed with Hirschsprung Disease. Control group - mothers who are age and month of post-partum matched, with normal infants
Exclusion criteria
Exclusion criteria: Children admitted with suspicion of HSCR but who have ganglion cells positive on biopsy will be excluded from the study. Children with concomitant hypothyroidism and HSCR will be excluded. Mothers of the children with diagnosed HSCR who are on regular medications like antidepressants, antiepileptics, antipsychotics, statins etc or has received Vitamin A supplementation during pregnancy, will be excluded.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To compare vitamin A liver stores (which is the gold standard currently available for vitamin A status measurement) in mothers of infants with Hirschsprung Disease to mothers with normal childrenTimepoint: Blood samples taken at baseline, Day 1, Day 3 and Day 21. | — |
Secondary
| Measure | Time frame |
|---|---|
| Next generation sequencing of RET exons along with its upstream promoter region was done in the 7 proband-parent trios to evaluate the existence of pathogenic variants in the children with HSCRTimepoint: Blood samples taken at baseline | — |
Countries
India
Contacts
Public ContactShalini Gajanan Hegde
St Johns Research Institute
Outcome results
None listed