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Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy.
Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal and cardiac abnormalities and short stature. After cystic fibrosis (CF
Hereditary pancreatitis (HP) is an inflammation of the pancreas due to genetic causes. It was first described in 1952 by Comfort and Steinberg [1] but it was not until 1996 that Whitcomb et al [2] isolated the first responsible mutation in the trypsinogen gene on the long arm of chromosome seven (7q35).
Mahvash disease is an autosomal recessive, hereditary pancreatic neuroendocrine tumor syndrome. [1] [2] The genetic defect that causes Mahvash disease is biallelic inactivating mutations of the glucagon receptor gene (GCGR). [3] Mahvash disease was discovered by American physician Run Yu and his colleagues in 2008. [4] Mahvash disease is very rare.
There is no suggested cause for the dorsal pancreatic agenesis, however there are several hypotheses for the underlying mechanism. [1] [9] As the dorsal pancreatic bud is the ancestor for the majority of pancreas, one possible explanation to this rare anomaly is the dorsal mesentery ischemia which induces the dysgenesis of pancreas. [1]
Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with intellectual disability, hearing loss and growth failure. [1]
Exocrine pancreatic insufficiency (EPI) is the inability to properly digest food due to a lack or reduction of digestive enzymes made by the pancreas.EPI can occur in humans and is prevalent in many conditions [1] such as cystic fibrosis, [2] Shwachman–Diamond syndrome, [3] different types of pancreatitis, [4] multiple types of diabetes mellitus (Type 1 and Type 2 diabetes), [5] advanced ...
The most common genetic cause is a change in one or both copies of a gene that instructs the building of the potassium channel (ABCC8 and KCNJ11). [ 29 ] [ 30 ] This channel normally regulates insulin production from the β-cell in the pancreas in response to sugar levels in the blood.