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Cold induced sweating syndrome with urinary system anomaly association
Salim Aljabari1, Emily Howard, Todd Bell
1Department of Pediatrics, Texas Tech University Health Science Center, Amarillo, TX 79106, USA.
Case Reports in Pediatrics
|September 28, 2013
Summary
Cold-induced sweating syndrome (CISS), caused by CRLF1/CLCF1 gene mutations, presents with paradoxical sweating and developmental issues. This report details the first CISS case with a urinary system anomaly, suggesting a role in kidney development.
Area of Science:
- Genetics
- Developmental Biology
- Rare Diseases
Background:
- Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder.
- It results from mutations in the cytokine receptor-like factor 1 and cardiotrophin-like cytokine (CRLF1 or CLCF1) genes.
- CISS is characterized by paradoxical sweating in cold environments, facial dysmorphia, musculoskeletal deformities, feeding difficulties, and recurrent fevers.
Purpose of the Study:
- To report the first documented case of CISS presenting with a urinary system anomaly.
- To explore the potential role of CRLF1/CLCF1 in embryonal nephrogenesis.
Main Methods:
- Case report presentation.
- Clinical evaluation and genetic analysis (implied).
Main Results:
- A patient with CISS was identified with a concurrent urinary system anomaly.
- This association suggests a potential link between CRLF1/CLCF1 and kidney development.
Conclusions:
- The CRLF1/CLCF1 genes may play a role in the embryonal development of the urinary system.
- This finding expands the known phenotypic spectrum of CISS and highlights potential new research avenues.
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