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Related Concept Videos

Tooth Anatomy01:21

Tooth Anatomy

The human tooth enables us to eat a variety of foods, speak clearly, and even aid in shaping our faces. Teeth are composed of various elements that work together. Here's a detailed look at the anatomy of a human tooth.
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or grinding food.
Teeth01:15

Teeth

The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin and...
What is the Skeletal System?01:02

What is the Skeletal System?

Overview
Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Oral Cavity01:11

Oral Cavity

The oral cavity, or the mouth, is a complex structure in humans that plays a vital role in our day-to-day lives. Its role is not only in chewing and swallowing food; it also plays a role in speech and facial expressions.
Teeth: The teeth are the hardest structures in our bodies. Humans have two sets of teeth throughout their lifetime: deciduous (baby) teeth and permanent teeth. Each tooth consists of several parts: the crown (visible part), the root (embedded in the jaw), enamel (hard outer...
Assessment of the Mouth01:26

Assessment of the Mouth

A thorough mouth assessment, including inspection and palpation of the lips, gums, tongue, tonsils, uvula, and pharynx, is crucial in detecting potential health issues. Diseases ranging from oral cancer to systemic conditions like diabetes could be identified early through careful oral examination. This article provides a detailed guide on conducting a comprehensive mouth assessment.
Mouth Inspection
The inspection begins with visually examining the mouth for symmetry, color, and size.

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Systematic Assessment of Mammalian Skull Specimens for Dental and Temporomandibular Joint Pathology
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Systematic Assessment of Mammalian Skull Specimens for Dental and Temporomandibular Joint Pathology

Published on: August 22, 2022

Dent's disease.

Olivier Devuyst1, Rajesh V Thakker

  • 1Division of Nephrology, Université catholique de Louvain Medical School, Brussels, Belgium. olivier.devuyst@uclouvain.be

Orphanet Journal of Rare Diseases
|October 16, 2010
PubMed
Summary
This summary is machine-generated.

Dent's disease is a rare genetic kidney disorder causing proximal tubule dysfunction, leading to kidney stones and failure. Caused by CLCN5 or OCRL1 gene mutations, it primarily affects males with variable severity.

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Dent's disease is an X-linked renal tubular disorder.
  • Characterized by proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and progressive renal failure.
  • Primarily affects males, with female carriers exhibiting a milder phenotype.

Purpose of the Study:

  • To summarize the key features, genetic causes, diagnosis, and management of Dent's disease.
  • To highlight the clinical manifestations and diagnostic criteria.
  • To discuss the genetic basis and prognosis of this rare kidney disorder.

Main Methods:

  • Review of existing literature on Dent's disease.
  • Analysis of clinical and genetic data from reported cases.
  • Summarization of diagnostic criteria and management strategies.

Main Results:

  • Dent's disease results from mutations in CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes.
  • Diagnosis requires low-molecular-weight proteinuria, hypercalciuria, and at least one other sign (e.g., nephrocalcinosis, kidney stones).
  • While prognosis is generally good, 30-80% of affected males progress to end-stage renal failure between the 3rd and 5th decades.

Conclusions:

  • Dent's disease is a significant cause of inherited kidney dysfunction.
  • Accurate diagnosis through clinical and molecular testing is crucial.
  • Supportive care focused on managing hypercalciuria and preventing kidney stones is the primary treatment approach.