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

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.

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

scholarly journals Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Guannan He ◽  
Yan Yin ◽  
Jing Zhao ◽  
Xueyan Wang ◽  
Jiaxiang Yang ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Chondrodysplasia Punctata ◽  
Recessive Type

Pierson syndrome: A case report with a neonatal cardiac association based on a novel mutation in the LAMB2 gene

2015 ◽  
Vol 4 (4) ◽  
pp. 281
Author(s):  
Hussain Parappil ◽  
Rehab Ali ◽  
Faraz Masud ◽  
Anant Pai ◽  
Nahid Nahavandi ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Pierson Syndrome

A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report

2020 ◽  
pp. 1-4
Author(s):  
R. González-Tarancón ◽  
E. Salvador-Rupérez ◽  
MD Miramar Gallart ◽  
E. Barroso ◽  
I. Díez García-Prieto ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation
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