Shwachman-diamond syndrome
| Autor: | Tan, Huihan, Su, Dequan, Zhuo, Zhiqiang |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Heterozygote
shwachman-diamond syndrome heterozygous mutations Anti-Inflammatory Agents Infant Glycyrrhizic Acid Bone and Bones Pancreas Exocrine Shwachman-Diamond Syndrome Treatment Outcome Mutation Humans Exocrine Pancreatic Insufficiency Female Clinical Case Report SBDS genes Growth Disorders Transaminases Research Article |
| Zdroj: | Medicine |
| ISSN: | 1536-5964 0025-7974 |
| Popis: | Rationale: The aim of this study was to analyze the genetic abnormalities and clinical manifestations of Shwachman-Diamond syndrome (SDS). Patient concerns: A Chinese infant with elevated transaminase and a novel mutation at of sbdsc.258 +2T>C and c.184a>Tc.292G>A. Diagnoses: The female patient was 5 months’ old at onset, with elevated transaminase as the first manifestation accompanied by restricted growth and development and oily stool. After sequencing the blood samples from patients and their parents, the heterozygous mutations of sbdsc.258 +2T>C and c.184a>T were detected. Interventions: After admission, the patient was provided compound glycyrrhizin, Newtide formula milk supplemented with probiotics, fat-soluble vitamins, oral medication to adjust the spleen and stomach, and other symptomatic treatments. Outcomes: The stool traits improved, and the levels of liver function transaminases decreased compared with before. Lessons: SDS is a rare disease with a variety of clinical manifestations. Pancreatic exocrine dysfunction, blood system manifestations, and bone abnormalities are common clinical manifestations, and genetic testing is helpful for diagnosis. |
| Databáze: | OpenAIRE |
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