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Partial pancreatic agenesis
Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.
ORPHA:2805Classification level: Disorder
It is a rare disorder with only around 50 cases being reported in the literature so far.
The severity of the disease depends on the amount of functional pancreatic tissue present. Pancreatic agenesis is commonly associated with other malformations, in particular pancreaticobiliary duct anomalies, leading to acute or chronic pancreatitis, hyperglycemia (50% of cases), or, more rarely, polysplenia. In the majority of cases, patients are diagnosed after reporting abdominal pain. Agenesis of the dorsal pancreas usually manifests as diabetes.
Pancreatic agenesis has been associated with mutations in the PDX1 gene (13q12.1), which encodes the insulin promoter factor-1 (IPF-1) transcription factor. In addition, missense mutations in the PTF1A gene (10p12.3) have been found to be responsible for the autosomal recessive syndrome of neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis (see this term).
Diagnosis is made by imaging studies revealing the partial absence of the pancreas.
The principle differential diagnosis is pancreas divisum.
Management and treatment
Management involves treatment of the diabetes and exocrine deficiency, when present.
The prognosis for patients is variable, depending on the quality of treatment received.