Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023890 (cirrhosis)
 42,195 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the second report of combined oxidative phosphorylation deficiency-9. The infant presented in the neonatal period with poor feeding, lactic acidosis and sensorineural hearing loss. He subsequently developed a lethal hypertrophic cardiomyopathy during infancy. Cirrhosis and interstitial nephritis were identified at autopsy. Exome sequencing has detected compound heterozygous mutations in the MRPL3 gene which encodes a large mitochondrial ribosome subunit protein. We identified a known heterozygous variant NM_007208 c.950>G (Pro317Arg) in the MRPL3 gene and a novel heterozygous mutation NM_007208 c.49delC p.(Arg17Aspfs*57). Mutations in MRPL3 have previously been shown to alter ribosome assembly and cause abnormal function of multiple respiratory chain complexes. Our case adds to the evolving knowledge of disorders of mitochondrial translation.
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PMID:COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis. 2781 43

Although new heptatis C virus treatments have increased efficacy and improved safety profiles, they also come with risk. We describe a 66-year-old white man with Child-Pugh A cirrhosis secondary to heptatis C virus genotype 3, who suffered from an acute kidney injury after treatment with sofosbuvir and daclatasvir. Kidney biopsy demonstrated evidence of acute tubular interstitial nephritis consistent with a drug reaction. A trial of steroid therapy was effective, and his creatinine continues to improve significantly. Our case is the first report in the literature that highlights potentially serious interstitial nephritis associated with sofosbuvir and daclatasvir use.
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PMID:Acute Interstitial Nephritis Associated with Sofosbuvir and Daclatasvir. 2870 60


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