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Related Concept Videos

Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...
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Type II Diabetes II: Pathophysiology

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[Rickets vitamin-D-dependent type 2].

Raquel Santos1, Sérgio Neves, Clara Gomes

  • 1Unidade de Nefrologia Pediátrica, Hospital Pediátrico de Coimbra, Coimbra.

Acta Medica Portuguesa
|March 31, 2010
PubMed
Summary
This summary is machine-generated.

Vitamin D dependent rickets type II is a rare condition causing bone disorders. Alopecia can be a key diagnostic sign, and prolonged calcium infusions effectively manage the disease.

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Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Context:

  • Rickets, a childhood bone disease, is rare in developed nations, with nutritional rickets being most common.
  • Congenital rickets forms exist, with Vitamin D Dependent Rickets Type II (VDDR-II) being exceptionally rare.
  • VDDR-II involves mutations in the vitamin D receptor, leading to resistance to vitamin D's action.

Purpose:

  • To present two clinical cases of VDDR-II.
  • To highlight alopecia as a distinctive diagnostic indicator for VDDR-II.
  • To discuss the management and effectiveness of prolonged calcium infusions.

Summary:

  • Two cases of VDDR-II are detailed, where alopecia was a crucial early sign aiding diagnosis.
  • Treatment involved prolonged calcium infusions, which normalized serum calcium levels and corrected bone abnormalities.
  • While bone disorders were resolved, alopecia remained a persistent symptom despite treatment.

Impact:

  • Emphasizes the diagnostic significance of alopecia in rare genetic rickets.
  • Demonstrates the efficacy of calcium infusions in managing VDDR-II.
  • Contributes to understanding the clinical presentation and treatment of VDDR-II.