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Question

Which one of the following hereditary tubulo-interstitial kidney diseases has an autosomal recessive mode of inheritance?

The correct answer is
Nephronophthisis

This question asks to identify a specific type of hereditary tubulo-interstitial kidney disease that follows an autosomal recessive inheritance pattern.

Understanding Hereditary Tubulo-InterSTITIAL Kidney Diseases

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.

Autosomal Recessive Inheritance Explained

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.

Nephronophthisis: An Autosomal Recessive Kidney Disease

Let's examine the options in the context of autosomal recessive inheritance:

  • Nephronophthisis (NPH): This condition is a classic example of a hereditary tubulo-interstitial kidney disease inherited in an autosomal recessive manner. It affects the renal medulla and interstitium, leading to progressive kidney damage and often end-stage renal disease (ESRD) in childhood or early adulthood. Mutations in several genes (like *NPHP1*, *NPHP3*, etc.) are associated with NPH.
  • Medullary Cystic Kidney Disease (MCKD) Types 1 and 2: These conditions are typically inherited in an autosomal dominant pattern, not autosomal recessive.
  • Juvenile Hyperuricaemic Nephropathy (JHN): While JHN can involve hyperuricaemia and kidney damage and is often linked to recessive inheritance (related to certain genes like *SLC2A9*), Nephronophthisis is the most direct and widely recognized answer fitting the description of an autosomal recessive hereditary tubulo-interstitial kidney disease among the typical choices presented in such questions.

Therefore, Nephronophthisis is the hereditary tubulo-interstitial kidney disease among the choices that characteristically follows an autosomal recessive mode of inheritance.

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Important Questions from Miscellaneous

  1. Which of the following heart sounds are best heard with the bell of stethoscope?

    I. Opening snap

    II. Systolic click

    III. Third heart sound

    IV. Mid diastolic murmur

    Select the correct answer using the code given below:

  2. Consider the following statements for diagnosing ventricular aneurysm in a patient with recent myocardial infarction:

    I. Paradoxical impulse on chest wall

    II. Persistent ST elevation on ECG

    III. Unusual bulge from cardiac silhouette on X-ray

    IV. Presence of pulsus paradoxsus

    Which of the above are correct?

  3. Which one of the following statements is correct for subcutaneous nodules in Rheumatic fever?

  4. Which one of the following is correct with regard to Carey Coombs murmur?

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