Could It Be CSID?
Disease • Diagnosis • Trial Rx
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Disease
What is Congenital Sucrase-Isomaltase Deficiency?
Congenital Sucrase-Isomaltase Deficiency (CSID) is a rare disorder caused by variants of the sucrase-isomaltase (SI) gene that code for dysfunctional forms of the enzyme. SI digests sucrose and maltose to enable absorption. Failure to absorb either causes postprandial colonic fermentation and osmotic diarrhea. Children with CSID face unique challenges to their growth and development. When a patient presents with chronic diarrhea, excess flatulence, bloating, and abdominal pain and cramping, it could be CSID.
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Diagnosis
How to Diagnose CSID
CSID is largely a clinical diagnosis.
Disaccharidase Assay
A disaccharidase assay using the substrate sucrose can detect deficient sucrase activity when it occurs in EGD-biopsied tissue.
Sucrose Breath Tests
Breath tests (hydrogen-methane and 13C-sucrose) quantify the ability to digest sucrose by measuring the metabolic products of sucrose digestion in exhaled air.
4-4-4 Simple Oral Sugar (Sucrose) Challenge
A qualitative assessment of the ability to digest sugar can be made by observing, over a 4-hour period, the GI response to drinking a solution of 4 tablespoons of sugar dissolved in 4 ounces of water. Individuals with CSID may experience severe GI symptoms. Thus, this test is not appropriate for infants, young children, patients with diabetes, or the elderly.
Unless combined with a clinical history of chronic, postprandial GI symptoms and/or normal small bowel histology, none of these diagnostic tests, which detect sucrase deficiency, are able to differentiate between primary sucrase deficiency, which is a part of CSID, and secondary or acquired sucrase deficiency.
Trial Rx
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Sucraid® 4-Day Trial offers eligible patients diagnosed with CSID a short therapeutic trial of Sucraid® to assess response in patients clinically diagnosed with Congenital Sucrase-Isomaltase Deficiency (CSID).