Which one of the following hereditary tubulo-interstitial kidney diseases has an autosomal recessive mode of inheritance?
This question asks to identify a specific type of hereditary tubulo-interstitial kidney disease that follows an autosomal recessive inheritance pattern.
Tubulo-interstitial kidney diseases affect the tubules and the surrounding tissue (interstitium) in the kidneys. When these diseases are hereditary, it means they are caused by genetic mutations passed down through families. The inheritance pattern tells us how these genetic traits are transmitted from parents to offspring.
An autosomal recessive mode of inheritance means that an individual must inherit two copies of a mutated gene (one from each parent) to develop the condition. If a person inherits only one copy of the mutated gene, they are a carrier but typically do not show symptoms.
Let's examine the options in the context of autosomal recessive inheritance:
Therefore, Nephronophthisis is the hereditary tubulo-interstitial kidney disease among the choices that characteristically follows an autosomal recessive mode of inheritance.
A 42-year old man with history of alcohol dependency presents with progressive abdominal distension. Abdominal examination reveals a
shifting dullness. Which one of the following is the most appropriate drug to relieve this abdominal distension?
Which one of the following is the investigation of choice for diagnosing the presence of stones in the gall-bladder?
Which one of the following biologic agents used in the treatment of inflammatory Bowel Disease acts by inhibiting the enzyme 'Janus Kinase'?
Melanosis coli, which occurs due to long term consumption of stimulant laxatives, presents as brown dis-colouration of colonic mucosa due to
deposition of which one of the following pigments?
Consider the following with regard to Gilbert Syndrome:
I. Autosomal recessive trait of a mutation in gene for UDP- glucuronyl transferase enzyme
II. Elevation of unconjugated bilirubin
III. No stigmata of chronic liver disease other than jaundice
IV. Early Liver biopsy recommended in patients with possible Gilbert Syndrome
Which of the above are correct?