4.5 Article

Shwachman-diamond syndrome A case report

Journal

MEDICINE
Volume 100, Issue 7, Pages -

Publisher

LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MD.0000000000024712

Keywords

heterozygous mutations; SBDS genes; shwachman-diamond syndrome

Ask authors/readers for more resources

This study analyzed the genetic abnormalities and clinical manifestations of SDS, showing that elevated transaminase and restricted growth are common initial symptoms. Genetic testing is helpful for diagnosis.
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.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.5
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available