scholarly journals Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene

2021 ◽  
Vol 10 (5) ◽  
pp. 1369-1376
Author(s):  
Ben Kang ◽  
Su-Kyeong Hwang ◽  
Sujin Choi ◽  
Eun Soo Kim ◽  
Sang Yub Lee ◽  
...  
Keyword(s):  
Case Report ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Novel Mutation ◽  
Juvenile Polyposis ◽  
First Report ◽  
Smad4 Gene

scholarly journals A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

2010 ◽  
Vol 5 (1) ◽  
Author(s):  
Mohammed Al-Owain ◽  
Sarar Mohamed ◽  
Namik Kaya ◽  
Ahmad Zagal ◽  
Gert Matthijs ◽  
...  
Keyword(s):  
Case Report ◽  
Dilated Cardiomyopathy ◽  
Novel Mutation ◽  
First Report

Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Linlin Huang ◽  
Ting Shi ◽  
Ying Li ◽  
Xiaozhong Li
Keyword(s):  
Acute Kidney Injury ◽  
Case Report ◽  
Frameshift Mutation ◽  
Novel Mutation ◽  
Kidney Injury ◽  
Febrile Illness ◽  
Type I ◽  
Continuous Venovenous Hemodiafiltration ◽  
Glutaric Acidemia Type I ◽  
Acute Decompensation

This is a case report of a girl with glutaric acidemia type I (GA-I) who experienced rhabdomyolysis and acute kidney injury (AKI). Her first acute metabolic crisis occurred at the age of 5 months, which mainly manifested as irritable crying, poor appetite, and hyperlactatemia. Mutation analysis showed 2 pathogenic mutations in the glutaryl-CoA dehydrogenase (GCDH) gene, which were c.383G>A (p.R128Q) and c.873delC (p.N291Kfs*41), the latter of which is a novel frameshift mutation of GA-I. She had a febrile illness at the age of 12 months, followed by AKI and severe rhabdomyolysis. Four days of continuous venovenous hemodiafiltration (CVVHDF) helped to overcome this acute decompensation. This case report describes a novel mutation in the GCDH gene, that is, c.873delC (p.N291Kfs*41). Also, it highlights the fact that patients with GA-I have a high risk of rhabdomyolysis and AKI, which may be induced by febrile diseases and hyperosmotic dehydration; CVVHDF can help to overcome this acute decompensation.

The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome

2012 ◽  
Vol 55 (8) ◽  
pp. 886-892 ◽  
Author(s):  
Margaret O’Malley ◽  
Lisa LaGuardia ◽  
Matthew F. Kalady ◽  
Joseph Parambil ◽  
Brandie Heald ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals Infantile Systemic Hyalinosis: A Case Report with a Novel Mutation

2013 ◽  
Vol 28 (1) ◽  
pp. 53-55 ◽  
Author(s):  
Siham Al Sinani ◽  
Fathyia Al Murshedy ◽  
Reem Abdwani
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Infantile Systemic Hyalinosis

scholarly journals A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature

2015 ◽  
Vol 30 (2) ◽  
pp. 129-134 ◽  
Author(s):  
Aisha Al-Sinani ◽  
Waad-Allah Mula-Abed ◽  
Manal Al-Kindi ◽  
Ghariba Al-Kusaibi ◽  
Hanan Al-Azkawi ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Hydroxysteroid Dehydrogenase ◽  
Review Of Literature ◽  
First Case ◽  
Type 3

scholarly journals ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

RMD Open ◽  
2016 ◽  
Vol 2 (1) ◽  
pp. e000236 ◽  
Author(s):  
F Uettwiller ◽  
G Sarrabay ◽  
M P Rodero ◽  
G I Rice ◽  
E Lagrue ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation
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