Jun 09, 2020
Shortly after birth, the participant started wheezing and was diagnosed with weak cartilage in the walls of the larynx and bronchial tubes (laryngomalacia and bronchomalacia). When he was a newborn, he had significant acid reflux (gastroesophageal reflux) and projectile vomiting. At 4 months, he was hospitalized for pneumonia. After he started eating solid foods, he started vomiting more often and experiencing constipation. A gastronomy tube was placed to help with his growth, but the participant did not tolerate it. He now receives all medicine and nutrition through a central venous catheter.
The participant also has episodic fevers. During these fever episodes, he has high levels of ferritin in his blood (increased serum ferritin) and low coagulation activity (reduced coagulation factor V activity, hypofibrinogenemia). He has also been diagnosed with gallbladder inflammation (cholecystitis), which was fixed with surgery. Some of his other symptoms include asthma, low bone density (osteopenia), urinary retention, enlarged spleen (splenomegaly), inflammation of the pancreas (pancreatitis), and speech articulation difficulties.
The following genetic change was identified in a UDN participant.
If this participant sounds like you or someone you know, please contact us!
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