Shwachman Diamond Syndrome

Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder that is caused by mutations of the SBDS gene (Boocock et al, 2003). Although the exact function of the SBDS protein is currently unknown, the most common clinical manifestations are characterized by exocrine pancreatic dysfunction, bone marrow dysfunction, and skeletal abnormalities (Mack et al, 1996). Other organs may be involved including the liver, kidneys, heart, central nervous system, and teeth. The difficulty in diag nosis lies in the variability of disease expression among individuals and the clinical symptoms can vary with age (Ginzberg et al, 2000).

Diagnosis

There are several mutations in the SBDS gene discovered to date and with the phenotypic variation among individuals, gene testing may become a tool similar to its use in CF as this form of testing becomes more available. By and large the diagnosis is made in infancy and is based on the constellation of clinical features, along with blood tests and radiologic investigations. Acinar and ductal exocrine pancreatic dysfunction may be quantified by pancreatic stimulation tests but they are demanding and no standard methodology has been established. Serum testing for pancreatic enzymes may be useful as a diagnostic tool in suspected patients because serum pancreatic isoamylase remains low in SDS patients in contrast to the serum cationic trypsinogen that may increase with advancing age. Bone marrow dysfunction is characterized in peripheral blood counts by persistent or intermittent anemia, leukopenia, and/or thrombocytopenia (Dror et al, 2002). Radiologic investigations reveal abnormal development in growth plates and metaphyses (Makitie et al, 2004) and imaging studies show a small fatty pancreas.

Constipation Prescription

Constipation Prescription

Did you ever think feeling angry and irritable could be a symptom of constipation? A horrible fullness and pressing sharp pains against the bladders can’t help but affect your mood. Sometimes you just want everyone to leave you alone and sleep to escape the pain. It is virtually impossible to be constipated and keep a sunny disposition. Follow the steps in this guide to alleviate constipation and lead a happier healthy life.

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