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Abstract: SA-PO497

Case of Chronic Lactic Acidosis in an Adult Female

Session Information

Category: Fluid‚ Electrolyte‚ and Acid-Base Disorders

  • 1002 Fluid‚ Electrolyte‚ and Acid-Base Disorders: Clinical

Authors

  • Alvarez Retamales, Violeta, University of Florida College of Medicine, Jacksonville, Florida, United States
  • Heilig, Charles W., University of Florida College of Medicine, Jacksonville, Florida, United States
Introduction

Sengers syndrome (SS) is a rare autosomal recessive disorder due to mutations in acylglycerol kinase (AGK) gene. We report a case of an adult female referred to the nephrology clinic with chronic lactic acidosis, diagnosed clinically and undergoing genetic work up for SS.

Case Description

30 y/o F, born of consanguineous parents, with history of chronic myalgias, asthenia, exercise intolerance, open angle glaucoma, and congenital cataracts is found to have chronic lactic acidosis. Her serologies are remarkable for AST at 55 U/L, ALT at 41 U/L, aldolase at 13.4 U/L, lactic acid at 7.6 mmol/L, LDH at 220 U/L, CK at 504 U/L. Urine lactic acid at 92 mmol/mol creat. Echocardiogram (TTE) revealed mild concentric left ventricular hypertrophy but otherwise unremarkable.

She has two younger twin brothers, one of them share her symptoms along with cardiomyopathy. No one else in the family has similar symptoms. Her 24 y/o brother has been recently diagnosed with SS. Patient is currently undergoing further genetic workup to confirm SS.

Discussion

SS is caused by homozygous or compound heterozygous mutation in the AGK gene on chromosome 7q34. It is an autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. SS is usually diagnosed in infancy yet that is not the case with this patient. Being a very rare disease, its phenotype/genotype is still uncertain. AGK is involved in the synthesis of phosphatidic acid which acts as a second messenger regulating several cellular processes and plays an important role in the synthesis of phospholipids. Multiple studies found oxidative phosphorylation defects in SS and suggested that mitochondrial respiration and metabolism are affected in the absence of AGK. SS can have high mortality rate due to hypertrophic cardiomyopathy, yet in our patient TTE showed only mild hypertrophy. SS can be differentiated from other hypertrophic cardiomyopathy associated genetic disorders by its high incidence of ocular lesions. A distinctive feature is the development of marked lactic acidosis on slight muscular exercise for which our patient has been told to avoid any strenuous activity. Much is still to be understood about SS, yet strong clinical suspicion is needed when a patient presents with ocular lesions, lactic acidosis, muscle weakness and cardiomyopathy clinical features.