MODY subtypes: gene mutations, pathophysiology, and clinical characteristics

Maturity-onset diabetes of the young (MODY) is an autosomal dominantly inherited type of diabetes that results from heterozygous mutations in various transcription factors acting in the development and maturation of pancreatic β-cells. In addition, mutations in enzymes involved in glucose sensing of the β-cell have also been shown to result in early-onset diabetes. Characteristic features of MODY are autosomal inheritance, early onset of diabetes (with diagnosis generally before the age of 25 years), no signs related to the autoimmune process or insulin resistance, and preservation of endogenous insulin secretion.

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Clinical Features of Anaphylaxis

Anaphylaxis can present with a spectrum of signs and symptoms affecting multiple organ systems, including the skin, gastrointestinal tract, cardiovascular system, nervous system, and both the upper and lower respiratory tracts; hallmarks of anaphylaxis are the development of hypotension or the involvement of more than one organ system.

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Clinical Manifestations of Thyroiditis Subtypes

Thyroiditis refers to a group of inflammatory diseases affecting the thyroid gland. With the help of historical information, a physical examination and diagnostic tests, physicians can classify the type of thyroiditis and initiate appropriate treatment.

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Clinical Features of Nephrotic and Nephritic Syndrome

Clinical Features of Nephrotic Syndrome

The nephrotic syndrome is a clinical complex characterized by:

  • proteinuria of >3.5 g per 1.73 m2 per 24 h (in practice, >3.0 to 3.5 g per 24 h),
  • hypoalbuminemia,
  • edema,
  • hyperlipidemia,
  • lipiduria, and
  • hypercoagulability.

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Clinical Conditions Associated with Disseminated Intravascular Coagulation (DIC)

DIC represents a continuum in clinical-pathological severity, characterised by the increasing loss of localisation or compensated control in intravascular activation of coagulation.

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