Alpha-1 Antitrypsin Deficiency (AATD)

A newborn presents with meconium ileus. Which genetic disorder should be high on the differential?

Which of the following sweat chloride values is consistent with a diagnosis of Cystic Fibrosis?

What is the most common mutation associated with Cystic Fibrosis?

A 25-year-old non-smoker presents with dyspnea and panlobar emphysema. What genetic disorder should be high on the differential?

What is the inheritance pattern of Alpha-1 Antitrypsin Deficiency?

Which gene is associated with Alpha-1 Antitrypsin Deficiency?

Which of the following is the treatment of choice for Alpha-1 Antitrypsin Deficiency?

Mutation in the DNAI1 gene is associated with which of the following genetic disorders?

A 4-year-old female presents with recurrent otitis media, pneumonia, and chronic nasal congestion. Physical exam reveals nasal polyps and conductive hearing loss. Which genetic disorder is most likely?

Which diagnostic finding is associated with Primary Ciliary Dyskinesia (PCD)?

What is the inheritance pattern of Primary Ciliary Dyskinesia (PCD)?

A newborn presents with bilious emesis and delayed passage of meconium. What condition should be considered?

What is the gold standard for diagnosing Hirschsprung disease?

Which genetic mechanism underlies Hirschsprung disease (HSCR)?

What is the most likely inheritance pattern of a condition if counseling reveals that some HSCR-associated genes may increase the risk for other conditions like MEN2A?

A 45-year-old female presents with fatigue, joint pain, and bronze skin. Lab results show elevated ferritin and transferrin saturation. What condition is most likely?

What is the function of the HFE protein?

Which intervention is most important in the managing Hereditary Hemochromatosis (HH)

A 19-year-old female presents with fatigue, jaundice, and hand tremors. A brownish ring around the edge of her corneas is suspicious for Kayser-Fleischer rings is noted. Which condition should be suspected?

Which protein is affected in Wilson Disease?

What blood test is most helpful in diagnosis of Wilson's disease?

Which of the following class of medication prevents intestinal absorption?

A 27-year-old female presents with bilateral flank pain, hypertension, and palpable kidneys. Family history includes intracranial aneurysms. What condition should be suspected?

What is the most common genetic mutation found in autosomal dominant polycystic kidney disease?

What clinical finding is associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

A 20-year-old G1P0 presents with enlarged, hyperechoic kidneys and oligohydramnios. What is the most likely genetic disorder?

A defect with structure and function of primary cilia is with which condition:

A 17-year-old female presents with hematuria, bilateral ocular opacities, and sensorineural hearing loss. What genetic disorder should be suspected?

Which gene is most associated with Alport Syndrome?

In autosomal dominant polycystic kidney disease (ADPKD), which of the following is most likely true considering the 'two-hit' hypothesis?

Which of the following best describes the role of primary cilia in the context of autosomal dominant polycystic kidney disease (ADPKD)?

What is the most common presenting symptom for alpha-1 antitrypsin deficiency (AATD) in adults?

Which of the following statements accurately reflects the genetic underpinnings of cystic fibrosis (CF)?

For a male infant diagnosed with cystic fibrosis (CF) due to meconium ileus at birth, what other finding is also likely?

What is the underlying mechanism by which alpha-1 antitrypsin deficiency leads to emphysema?

A 30-year-old male is diagnosed with Wilson disease. Which finding would be least likely?

Which intervention is indicated in the management Autosomal Recessive Polycystic Kidney Disease (ARPCKD)?

The parents of a child newly diagnosed with autosomal recessive polycystic kidney disease (ARPKD) seek genetic counseling. They are both healthy. What is the chance of them having another affected child?

A 9-year-old child is evaluated for growth failure and suspected cystic fibrosis (CF). The sweat chloride test is borderline indicating further evaluation is needed. Parental genetic testing shows one parent carries the ΔF508del allele and the other carries the R117H allele. Which of the following additional tests should be ordered on the child to clarify the initial diagnosis?

You are evaluating a 16-year-old with hematuria and progressive hearing loss. Renal biopsy shows changes of Alport syndrome. Which of the following patterns of inheritance mandates screening of all of the patient's siblings?

A 19-year-old primigravida (G1P0) at 10 weeks gestation presents with a fetus demonstrating echogenic bowel on ultrasound. Both parents are of Irish descent. What is the most appropriate next step in management?

A 2.5-year-old female with Northern European heritage presents with failure to thrive, malodorous stools, and recurrent upper respiratory infections. Physical exam reveals diffuse rhonchi and digital clubbing. What is the most likely underlying cause of this presentation?

Which of the following explains why Cystic Fibrosis (CF) is high on the differential diagnosis for a newborn with echogenic bowel?

A patient with cystic fibrosis has pancreatic insufficiency. Which of the following interventions would be the most appropriate?

What is the primary function of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein?

In Cystic Fibrosis, what is the effect of impaired chloride transport on the respiratory system?

A 28-year-old non-smoking female presents with dyspnea and a chronic cough. CT scan reveals panlobular emphysema. Alpha-1 antitrypsin deficiency is suspected. Which of the following findings would further support this diagnosis?

Which of the following best describes the genetic abnormality in Alpha-1 Antitrypsin Deficiency (AATD)?

A patient with Alpha-1 Antitrypsin Deficiency (AATD) is found to have the Pi*ZZ genotype. What is the implication of this finding?

What is the primary initial step in managing a patient diagnosed with Alpha-1 Antitrypsin Deficiency related emphysema?

A 4-year-old female presents with chronic nasal congestion, recurrent pneumonia, and conductive hearing loss. Physical exam reveals nasal polyps. Which of the following genetic mutations is most likely associated with this patient’s condition?

Which cellular structure is primarily affected in Primary Ciliary Dyskinesia (PCD)?

What classic finding is present in approximately 50% of patients with Primary Ciliary Dyskinesia (PCD)?

A newborn presents with bilious emesis, abdominal distention, and failure to pass meconium in the first 24 hours. The anus is patent, and rectal examination yields a forceful expulsion of meconium. Which condition is highest on your differential?

What is the underlying pathological process in Hirschsprung's disease (HSCR)

Which genetic event is associated with Hirschsprung disease (HSCR)?

In the management of Hirschsprung's disease (HSCR), what is the purpose of the initial surgical intervention?

A 45-year-old female presents with fatigue, joint pain, and skin hyperpigmentation. Lab results show elevated ferritin and transferrin saturation. Which inheritance pattern is most closely associated with the suspected condition?

Which gene is most commonly implicated in Hereditary Hemochromatosis (HH)?

What is the primary role of the HFE protein in iron metabolism?

What is the MOST important intervention in the routine management of Hereditary Hemochromatosis (HH)?

A 19-year-old female presents with fatigue, jaundice, and hand tremors. Kayser-Fleischer rings are noted on slit-lamp examination. Which genetic disorder is most likely?

Which protein is directly affected by mutations in the ATP7B gene in Wilson disease?

Which laboratory finding is most sensitive and specific for diagnosing Wilson disease?

A patient with Wilson disease is prescribed zinc acetate. How does this medication help manage the disease?

A 27-year-old female presents with bilateral flank pain, hypertension, and palpable kidneys. Her father and paternal aunt died from ruptured intracranial aneurysms. What is the most likely underlying genetic disorder?

Which of the following genes is most commonly mutated in Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

Which of the following extrarenal manifestations is most closely associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

A 20-year-old primigravida (G1P0) at 25 weeks gestation presents with a prenatal ultrasound demonstrating enlarged, hyperechoic kidneys and oligohydramnios in the fetus. What is the most probable diagnosis?

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is considered a ciliopathy. What are the functions of primary cilia in the kidney?

A 17-year-old female presents with hematuria, bilateral ocular opacities, and sensorineural hearing loss. What diagnosis should be suspected?

Which type of collagen is primarily affected in Alport Syndrome?

A patient with Alport Syndrome has a mutation in COL4A5. Which inheritance pattern is most likely?

Which statement BEST describes inheritance of Alport syndrome?

What is the role of genetic counseling in the management of Alpha-1 Antitrypsin Deficiency (AATD)?

Which of the following interventions focuses on slowing the progression of renal disease in Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

What is the typical treatment for infants with Autosomal Recessive Polycystic Kidney Disease (ARPKD)?

A couple, both carriers for an autosomal recessive disorder, seek genetic counseling. What is the chance that their child will inherit two abnormal genes and develop the disorder?

One of the most difficult aspects of counseling relates to variable expressivity, reduced penetrance and pleiotropy. Which of the following examples demonstrates a classic teaching point regarding such phenomena?

A 10-week gestation fetus is found to have echogenic bowel on ultrasound. The parents are of Irish descent. Besides genetic disorders, what other etiology should be considered?

A 2.5-year-old female with Northern European heritage presents with failure to thrive, malodorous stools, and recurrent URIs. Physical exam reveals diffuse rhonchi and digital clubbing. What historical finding is most suggestive of Cystic Fibrosis?

What is the function of the CFTR protein in sweat glands?

What is the underlying cause of pancreatic insufficiency in patients with Cystic Fibrosis (CF)?

What is the inheritance pattern of Alpha-1 Antitrypsin Deficiency (AATD)?

Which of the following is the most accurate description of the pathogenesis of emphysema in Alpha-1 Antitrypsin Deficiency (AATD)?

A 4-year-old female presents with chronic nasal congestion, recurrent pneumonia, and conductive hearing loss. Physical exam reveals nasal polyps. Which genetic finding is most likely associated with the patient's condition?

A newborn presents with bilious emesis, abdominal distention, and failure to pass meconium in the first 24 hours. Rectal examination yields a forceful expulsion of meconium. What is the most likely underlying cause?

What pathological process underlies Hirschsprung's disease (HSCR)?

A 45-year-old female presents with fatigue, joint pain, and skin hyperpigmentation. Further workup reveals elevated ferritin and transferrin saturation. Which gene mutation is most closely associated with the suspected condition?

A 19-year-old female presents with fatigue, jaundice, and hand tremors. Kayser-Fleischer rings are noted on slit-lamp examination. Which genetic abnormality causes this condition?

A 27-year-old female presents with bilateral flank pain, hypertension, and palpable kidneys. Her father and paternal aunt died from ruptured intracranial aneurysms. Which of the following genetic mutations is most commonly associated with this condition?

A 20-year-old primigravida (G1P0) at 25 weeks gestation presents with a prenatal ultrasound demonstrating enlarged, hyperechoic kidneys and oligohydramnios in the fetus. What is the pathogenesis that underlies these findings?

A 17-year-old female presents with hematuria, bilateral ocular opacities, and sensorineural hearing loss. What type of collagen is primarily affected in the underlying condition?

A 40-year-old with known AATD (Alpha-1 Antitrypsin Deficiency) presents with elevated liver enzymes and suspicion for hepatic involvement. A liver biopsy is performed. Which of the following findings would be the most specific for AATD-related liver disease, rather than other common liver pathologies?