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Examination of Oral Candida Infection in Primary Sjögren's Syndrome Patients

Examination of Oral Candida Infection in Primary Sjögren's Syndrome Patients

Published on: March 1, 2024

Recurrent oral thrush.

Somu Sivabalan¹, Shriraam Mahadevan, M V Srinath

¹Department of Pediatric Pulmonology, Sundaram Medical Foundation, Dr Rangarajan Memorial Hospital, Shanthi Colony, IV Avenue, Annanagar, Chennai, 600 040, Tamil Nadu, India, sivabalan.somu@gmail.com.

Indian Journal of Pediatrics

|October 2, 2013

Summary

Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) can manifest with chronic mucocutaneous candidiasis and hypoparathyroidism. Genetic analysis confirmed AIRE gene mutations in a child and fetus, leading to pregnancy termination.

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Area of Science:

Endocrinology
Genetics
Immunology

Background:

Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) is an autoimmune disorder.
APS1 is defined by at least two of three key features: chronic mucocutaneous candidiasis (CMC), Addison's disease, and hypoparathyroidism.

Observation:

A case report details a 1.5-year-old girl presenting with recurrent oral thrush and seizures.
Medical evaluation revealed severe hypocalcemia with low parathormone levels, indicating hypoparathyroidism.
The patient also had a history of oral candidiasis.

Findings:

The clinical presentation strongly suggested Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1).
Genetic analysis of the index child and fetus (via chorionic villus sampling) confirmed mutations in the AIRE gene, causative for APS1.
The parents chose medical termination of the pregnancy after genetic counseling.

Implications:

Recurrent oral thrush in children warrants consideration for conditions beyond immunodeficiency, including APS1.
Early diagnosis and genetic testing are crucial for managing APS1 and for family planning.
This case highlights the importance of comprehensive evaluation for rare autoimmune disorders in pediatric patients.