Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0162671 (
MELAS
)
587
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (
MELAS syndrome
) represents one of the most frequent mitochondrial disorders. The majority of
MELAS
cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA
Leu(UUR)
. Kidney involvement usually manifests as
Fanconi syndrome
or focal segmental glomerulosclerosis. We describe a patient with
MELAS
mutation, cardiomyopathy, and chronic kidney disease without
Fanconi syndrome
, proteinuria, or hematuria. While the patient was waitlisted for heart transplantation, her kidney function deteriorated from an estimated glomerular filtration rate of 33 to 20mL/min/1.73m
2
within several months. Kidney biopsy was performed to distinguish decreased kidney perfusion from intrinsic kidney pathology. Histologic examination of the biopsy specimen showed only a moderate degree of tubular atrophy and interstitial fibrosis, but quantitative analysis of the m.3243A>G mitochondrial DNA mutation revealed high heteroplasmy levels of 89% in the kidney. Functional assessment showed reduced activity of mitochondrial enzymes in kidney tissue, which was confirmed by immunohistology. In conclusion, we describe an unusual case of
MELAS syndrome
with chronic kidney disease without apparent proteinuria or tubular disorders associated with
Fanconi syndrome
, but widespread interstitial fibrosis and a high degree of heteroplasmy of the
MELAS
specific mutation and low mitochondrial activity in the kidney.
...
PMID:MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report. 2768 45
