Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge.

ABSTRACT: Pregnancy is a challenge in the life of a woman with chronic kidney disease (CKD), but also represents an occasion for physicians to make or reconsider diagnosis of kidney disease. Counselling is particularly challenging in cases in which a genetic disease with a heterogeneous and unpredictable phenotype is discovered in pregnancy. The case reported regards a young woman with Stage-4 CKD, in which "Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes" (MELAS syndrome), was diagnosed during an unplanned pregnancy. A 31-year-old Caucasian woman, being followed for Stage-4 CKD, sought her nephrologist's advice at the start of an unplanned pregnancy. Her most recent data included serum creatinine 2⁻2.2 mg/dL, Blood urea nitrogen (BUN) 50 mg/dL, creatinine clearance 20⁻25 mL/

SUBMITTER: Santoro D 

PROVIDER: S-EPMC6462991 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature