Genetics and Kidney Issues Quiz

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to Lesson

Podcast

Play an AI-generated podcast conversation about this lesson
Download our mobile app to listen on the go
Get App

Questions and Answers

What symptom is NOT typically associated with S&S kidney issues?

  • Hematuria
  • Increased hair growth (correct)
  • Frequent kidney infections
  • Pain at costovertebral angles

Which of the following represents a characteristic of sex-linked inheritance in males?

  • Males inherit only one X chromosome (correct)
  • Males have two X chromosomes
  • Males have no Y chromosome
  • Males have two Y chromosomes

Which type of disorder is most commonly associated with sex-linked inheritance?

  • Autosomal dominant disorders
  • X-linked recessive disorders (correct)
  • X-linked dominant disorders
  • Y-linked disorders

What does the “big” letter signify in X-linked recessive notation?

<p>A dominant, normal allele (A)</p> Signup and view all the answers

What does the prefix 'Onco' signify in medical terminology?

<p>Relation to cancer (A)</p> Signup and view all the answers

Which of the following best describes multifactorial genetic disorders?

<p>Combination of environmental triggers and genetic mutations (C)</p> Signup and view all the answers

Which of the following diseases is influenced by a mix of environmental and inherited components?

<p>Hypertension (HTN) (A)</p> Signup and view all the answers

What is a teratogen?

<p>An agent causing congenital defects (C)</p> Signup and view all the answers

Which condition is specifically a teratogenic disorder?

<p>Fetal alcohol syndrome (FAS) (B)</p> Signup and view all the answers

Congenital defects can be attributed to:

<p>A mix of environmental influences and genetic factors (D)</p> Signup and view all the answers

What is the common term for chromosomal disorders?

<p>Chromosomal aberrations (D)</p> Signup and view all the answers

Which factor contributed to 'thalidomide babies'?

<p>Consumption of thalidomide during early pregnancy (B)</p> Signup and view all the answers

What is the primary function of genes?

<p>Coding for the synthesis of proteins (D)</p> Signup and view all the answers

What happens when there is a mutation in a gene?

<p>The gene cannot synthesize proteins correctly (C)</p> Signup and view all the answers

What is the structure that carries genes within a cell?

<p>Chromosome (C)</p> Signup and view all the answers

How many chromosomes does a human inherit from each parent?

<p>23 (B)</p> Signup and view all the answers

Which of the following best describes a gene?

<p>A segment of DNA that codes for a specific trait (C)</p> Signup and view all the answers

What could be the potential outcome of a gene mutation affecting lactase?

<p>Lactose intolerance leading to diarrhea (B)</p> Signup and view all the answers

In what shape does DNA take when it is visible as a chromosome?

<p>Rod-shaped body (D)</p> Signup and view all the answers

What can be inferred when a gene coding for a functional protein is mutated?

<p>The gene may produce a malfunctioning protein (A)</p> Signup and view all the answers

What is the genotype of a person who inherits a sickle-cell disease gene from one parent and a normal Hgb-coding gene from the other parent?

<p>Dd (D)</p> Signup and view all the answers

What does it mean for an individual to be a carrier of sickle cell anemia?

<p>They have genotype Dd but do not have the disease. (C)</p> Signup and view all the answers

Which genotype indicates a person who does not have sickle cell disease and cannot pass on the disease?

<p>DD (B)</p> Signup and view all the answers

What is the phenotype of a carrier who exhibits milder symptoms of sickle cell disease?

<p>Sickle cell trait (B)</p> Signup and view all the answers

In autosomal dominant disorders, which scenario is TRUE?

<p>The gene coding for the disease characteristic is dominant. (D)</p> Signup and view all the answers

Which statement is FALSE about the genotype Dd regarding sickle cell disease?

<p>The person will exhibit the disease. (D)</p> Signup and view all the answers

What is an important characteristic of a person with genotype dd?

<p>They usually exhibit severe symptoms of sickle cell disease. (B)</p> Signup and view all the answers

What is the primary difference between autosomal dominant and autosomal recessive disorders?

<p>Dominant genes cause the disease while recessive genes are normal. (C)</p> Signup and view all the answers

What is the primary consequence of a deficiency of ATP in cells?

<p>Inability to perform normal cellular functions (B)</p> Signup and view all the answers

Which pH range is considered normal for blood?

<p>7.35 to 7.45 (A)</p> Signup and view all the answers

What leads to acidosis during anaerobic metabolism?

<p>Accumulation of acidic byproducts (C)</p> Signup and view all the answers

How does the body typically counteract its natural tendency toward acidity?

<p>By maintaining a slightly alkaline pH balance (D)</p> Signup and view all the answers

What is a potential consequence of relying on gluconeogenesis during hypoxia?

<p>Rapid shift in acid/base balance (C)</p> Signup and view all the answers

Which of these is NOT a result of hypoxia?

<p>Enhanced tissue regeneration (D)</p> Signup and view all the answers

What is the role of glycogen in cellular metabolism?

<p>Serves as a large storage form of glucose (B)</p> Signup and view all the answers

What effect does anaerobic glycolysis have on the body's pH?

<p>It lowers pH levels (A)</p> Signup and view all the answers

What is one cause of metabolic alkalosis?

<p>Large amount of vomiting (C)</p> Signup and view all the answers

Which condition is indicated by a low pH (< 7.35) associated with high CO2 retention?

<p>Respiratory acidosis (B)</p> Signup and view all the answers

How do the kidneys compensate for respiratory alkalosis?

<p>Decrease HCO3 production or increase its excretion (B)</p> Signup and view all the answers

What is a common psychological trigger for respiratory alkalosis?

<p>Severe anxiety (B)</p> Signup and view all the answers

During metabolic acidosis, what most commonly happens to the pH level?

<p>It becomes lower than 7.35 (C)</p> Signup and view all the answers

What is the primary physiological cause of respiratory alkalosis?

<p>Hyperventilation resulting in excess CO2 loss (C)</p> Signup and view all the answers

Which of the following statements is true regarding metabolic alkalosis?

<p>It can be caused by excessive bicarbonate ingestion. (B)</p> Signup and view all the answers

What happens to the HCO3 levels during metabolic acidosis?

<p>They decrease due to inability to excrete H+. (D)</p> Signup and view all the answers

Flashcards

Gene

A segment of DNA responsible for coding a specific protein, determining traits and characteristics.

Gene mutation

A change in the sequence of nucleotides within a gene, leading to altered protein function.

Gene replication

The process of creating a copy of a gene.

Chromosome

A functional unit of DNA which is packaged into a compact form.

Signup and view all the flashcards

DNA helix

A tightly coiled structure made of DNA and proteins.

Signup and view all the flashcards

Protein synthesis

The process of converting genetic information into functional proteins.

Signup and view all the flashcards

DNA

A molecule that carries genetic instructions.

Signup and view all the flashcards

Protein malfunction

A change in the amino acid sequence of a protein due to a gene mutation.

Signup and view all the flashcards

Multifactorial Genetic Disorder

A combination of genetic predisposition and environmental factors that influence a person's health and development.

Signup and view all the flashcards

Onco-

A prefix indicating a link to cancer.

Signup and view all the flashcards

Oncogene

A gene that promotes uncontrolled cell growth, potentially leading to cancer.

Signup and view all the flashcards

Teratogen

A substance or agent that can cause birth defects.

Signup and view all the flashcards

Congenital Defects

Abnormalities present at birth or associated with prenatal development.

Signup and view all the flashcards

Fetal Alcohol Syndrome (FAS)

A condition caused by the effects of alcohol exposure during pregnancy, leading to developmental abnormalities.

Signup and view all the flashcards

Chromosomal Disorders (Aberrations)

Disorders resulting from changes in the structure or number of chromosomes.

Signup and view all the flashcards

Heterozygous genotype

A combination of two different alleles for a gene, such as one normal and one diseased allele.

Signup and view all the flashcards

Carrier

An individual carrying a recessive gene for a disease but not displaying symptoms.

Signup and view all the flashcards

Sickle-cell trait

A person with a heterozygous genotype for a recessive disease may experience milder symptoms.

Signup and view all the flashcards

Homozygous normal

A genotype with two identical alleles, like DD, indicating the individual has two normal copies of the gene.

Signup and view all the flashcards

Autosomal dominant disorder

A disorder caused by a dominant gene mutation, meaning only one copy of the mutated gene needs to be present for the disease to manifest.

Signup and view all the flashcards

Autosomal genes

Genes responsible for traits not on sex chromosomes, passed through autosomes.

Signup and view all the flashcards

Genotype

The gene version present in a cell, affecting a specific trait. It describes the combination of alleles.

Signup and view all the flashcards

Phenotype

The observable characteristics of an organism, influenced by its genotype and environment.

Signup and view all the flashcards

X-linked gene pairs

The two X chromosomes in females function like autosomal chromosomes, meaning that each gene on one X has a matching allele on the other X. However, males only have one X chromosome, so the genes on their X do not have a partner on the Y chromosome.

Signup and view all the flashcards

X-linked dominant disorders

A gene mutation on an X chromosome can cause a disease. Dominant mutations are more common than recessive, and males are more likely to show the effects due to only having one X chromosome.

Signup and view all the flashcards

X-linked recessive disorders

Recessive mutations on the X chromosome are more likely to cause disease. Men with this mutation will show the trait, while women with one mutated X and one normal X might be carriers.

Signup and view all the flashcards

Y-linked disorders

Disorders caused by gene mutations on the Y chromosome are rare. Since females don't have a Y chromosome, they cannot be affected by these disorders.

Signup and view all the flashcards

Sex-linked vs. X-linked disorders

Sex-linked disorders are often used interchangeably with X-linked recessive disorders, as they are the most common type.

Signup and view all the flashcards

Acidosis

A state where the concentration of acidic substances in the blood and cells is higher than usual.

Signup and view all the flashcards

Anaerobic Glycolysis

The metabolic process that occurs when cells lack sufficient oxygen, resulting in the breakdown of glucose to produce a small amount of ATP and lactic acid.

Signup and view all the flashcards

Normal blood pH

The normal pH range of blood, slightly alkaline.

Signup and view all the flashcards

Maintaining Blood pH

The body's natural tendency to maintain a slightly alkaline blood pH.

Signup and view all the flashcards

Gluconeogenesis

The process of creating glucose from non-carbohydrate sources, like amino acids, to provide energy.

Signup and view all the flashcards

Glycogen

A molecule that is broken down into glucose to provide energy for cells.

Signup and view all the flashcards

ATP (Adenosine Triphosphate)

The primary energy source for cellular functions, produced through cellular metabolism.

Signup and view all the flashcards

Hypoxia

The condition that results when there is an inadequate supply of oxygen to the cells.

Signup and view all the flashcards

Metabolic alkalosis

A state of high pH (above 7.45) caused by an excess of bicarbonate (HCO3-) in the blood.

Signup and view all the flashcards

Respiratory alkalosis

A condition where the blood pH is too high (>7.45) due to hyperventilation, leading to a decrease in CO2 levels.

Signup and view all the flashcards

Respiratory acidosis

A condition where the blood pH is too low (<7.35) due to a buildup of CO2 from impaired lung function or respiration.

Signup and view all the flashcards

Metabolic acidosis

A condition where the blood pH is too low (<7.35) due to an excess of acid (H+) or a lack of bicarbonate (HCO3-) in the blood.

Signup and view all the flashcards

Respiratory compensation

The process of the body compensating for an acid-base imbalance by adjusting respiration rate and depth to regulate CO2 levels.

Signup and view all the flashcards

Metabolic compensation

The process of the body compensating for an acid-base imbalance by adjusting bicarbonate levels in the blood through kidney function.

Signup and view all the flashcards

Alkalosis

A state of high pH (above 7.45) caused by an excess of bicarbonate (HCO3-) in the blood.

Signup and view all the flashcards

Study Notes

Required Reading Document #1: Basic Concepts, Genetic Influence in Disease, and Intracellular Function and Disorders

  • This document provides basic concepts of pathophysiology and implications for nursing.
  • Students should read this document and other documents mentioned.
  • Students are responsible for assigned coursework and assignments.
  • All content links pathophysiology with clinical manifestations. This includes how pathophysiology results in symptoms and how recognizing symptoms helps identify a disease process.

Basic Concepts of Pathophysiology & Implications for Nursing

  • Objectives/outcomes: Students should be able to describe/discuss/identify concepts underlying physiology and pathophysiology and apply these to disease processes.

  • Outline:

    • Overview of physiology and pathophysiology.
    • Concepts of homeostasis, compensation, and decompensation.
    • Disease vs. disorder vs. syndrome.
    • Terminology/elements leading up to a disease, causes of a disease, and the disease course.

Physiology

  • Study of functions and processes occurring in the body, mainly normal processes.

Pathophysiology

  • Study of the underlying changes in body physiology that result from disease or injury.

Examples of Physiologic/Pathophysiologic Concepts

  • Physiologic amenorrhea (cessation of menstrual flow due to, for example, pregnancy or menopause) vs. pathophysiologic amenorrhea (cessation due to cancer).
  • Physiologic albuminuria vs. pathophysiologic albuminuria.

Homeostasis

  • Maintaining constant internal conditions (e.g., temperature, pH).
  • Body constantly works to return to balance when faced with stressors.

Compensation and Decompensation

  • Return to homeostasis after a stressor.
  • Achieved by control mechanisms (compensatory responses).
  • Failure to compensate, either rapidly or slowly, can result in decompensation.
  • Example: sweating in response to high temperature.

Pathology

  • A harmful condition of the body.

Disorder

  • A disturbance in the healthiness of the body.

Syndrome

  • A collection of symptoms.

Terms Relating to Elements Leading Up to Disease

  • Risk factors: Factors that increase the probability of a disease occurring (e.g., genetics, age, lifestyle).
  • Precipitating factors: Events that trigger a disease or disorder (e.g., stress, exertion triggering an asthma attack).

Terms Relating to Causes of Disease

  • Etiology: The cause of a disease (e.g., a virus, a genetic defect).
  • Idiopathic: A disease with an unknown cause.
  • Iatrogenic: A problem resulting from medical treatment (e.g., kidney failure caused by inappropriate antibiotic use).

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Quiz Team

Related Documents

More Like This

Kidney Labeling Quiz
12 questions
Kidney Function: NFP and GFR
14 questions

Kidney Function: NFP and GFR

TalentedFantasy1640 avatar
TalentedFantasy1640
Aging and the Urinary System Changes
32 questions
Abdominal and Kidney Issues Overview
13 questions
Use Quizgecko on...
Browser
Browser