MetaboLic Glomerular Injury

S. V. Seshan, Laura Barisoni-Thomas

Research output: Chapter in Book/Report/Conference proceedingChapter


MetaboLic diseases are as a result of acquired or inborn defects of enzymes or hormones. They can affect the carbohydrate, protein, or Lipid metaboLism. The most common form of metaboLic disease in humans is diabetes melLitus (DM) manifesting primarily hyperglycemia, which is a systematic condition affecting a number of organs. While there are several causes of glucose intolerance, there are two main types of DM, secondary to pancreatic β-cell failure (type 1) and decreased insuLin or increased peripheral insuLin resistance (type 2). One of the main targets of DM is the kidney, involving glomeruLi, tubulointerstitial compartment, and arterial vessels. Other less frequently encountered inherited metaboLic diseases include Lipid storage diseases, such as Fabry disease, Niemann-Pick disease, Gaucher disease, Lipoprotein glomerulopathy, and various forms of glycogen storage diseases. The kidneys are rarely involved in these conditions, except for Fabry disease that usually is symptomatic during young adulthood. The cLinicopathologic findings and pathogenetic mechanisms are diverse and are important for a definitive diagnosis and specific therapeutic regimen. The extent and severity of the pathological changes in the kidney depend on the type of genetic mutation and enzyme defect. Significant progress has been made in the treatment of DM and its renal compLications, including simultaneous kidney and pancreas or pancreas alone transplantation to correct the metaboLic defect. Severe inborn genetic defects of metaboLism have also been managed by enzyme replacement therapies in order to minimize the progress and severity of the disease as well as to prevent other systemic compLications of these diseases.

Original languageEnglish (US)
Title of host publicationPathobiology of Human Disease
Subtitle of host publicationA Dynamic Encyclopedia of Disease Mechanisms
PublisherElsevier Inc.
Number of pages7
ISBN (Electronic)9780123864567
ISBN (Print)9780123864574
StatePublished - Jan 1 2014


  • Diabetic nephropathy
  • Fabry disease
  • Glycogen storage disease
  • Kidney
  • Lipoprotein glomerulopathy
  • Niemann-Pick disease

ASJC Scopus subject areas

  • Medicine(all)


Dive into the research topics of 'MetaboLic Glomerular Injury'. Together they form a unique fingerprint.

Cite this