programs will be lysosomal storage diseases that were long considered to be untr
ID: 128939 • Letter: P
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programs will be lysosomal storage diseases that were long considered to be untreatable and therefore unsuit- able. Ho ver, treatment modalities are currently being investi ated for many lysosomal storage diseases and it is likely that the most success will come from early insti- gation of treatment. CASE STUDY 35-3 An infant presented to the pediatrician with failure to thrive, steatorrhea (foul-smelling, fatty stool), and per- sistent respiratory infections. An older sibling with the same clinical presentation has a confirmed genetic dis- ease. Questions 1. What is the likely diagnosis? 2. How is the disease inherited? 3. What is the molecular mechanism of this disease? 4. What is the gold standard diagnostic test? Diagnosis of Metabolic Disease in the Clinical Setting Back to page 2698 2836 of 3040Explanation / Answer
Steatorrhea and persistent respiratory infections in kids
Q1. The disease is most likely cystic fibrosis.
Q2. Every person inherits two (cystic fibrosis) CFTR genes one from each parent. Children who inherit a faulty cystic fibrosis CFTR gene from each parent will have cystic fibrosis. Thus this is an autosomal recessive gene.
Q3. The molecular mechanism of this disease is the mutation in the CFTR gene
Q4. The elevated levels of sweat chloride along with the presence of two mutations in CFTR gene are gold standard methods for diagnosis of CF disease.
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