Initial presentation with elevated transaminases and subsequent hematuria in limb-girdle muscular dystrophy type 2B: A case report

LGMD2B initially presents with atypical clinical manifestations. In some cases, elevated transaminase levels can be the first manifestation of the disease; therefore, any unexplained elevated transaminase levels should prompt evaluation of underlying muscle diseases. A 13-year follow-up of a female patient demonstrated progressive muscle atrophy, emphasizing the importance of considering muscle diseases in patients with unexplained elevated serum transaminase levels. Subsequent dark brown urine and hematuria were likely caused by increased myoglobin levels and dysferlin deficiency in podocytes, which may be associated with minimal change nephropathy.