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Mutations01:39

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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A Rare Genetic Mutation in a Stone Former.

T Yashwanth Raj1, Periandavan Kalaiselvi2, Pugazhendhi Kannan2

  • 1Department of Nephrology, Government Stanley Medical College, Chennai, Tamil Nadu, India.

Indian Journal of Nephrology
|July 16, 2021
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Summary

This study identifies a rare genetic mutation causing dihydroxy adenine (DHA) crystalline nephropathy in a young Indian patient with kidney stones. Early diagnosis and genetic testing are crucial for this inherited kidney disease.

Keywords:
2,8-Dihydroxyadenine nephropathyAdenosine phosphoribosyl transferasechronic kidney diseasegenetic mutation

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Area of Science:

  • Nephrology
  • Medical Genetics
  • Biochemistry

Background:

  • Recurrent kidney stones (nephrolithiasis) can indicate underlying metabolic or genetic disorders.
  • Chronic kidney disease (CKD) in young adults necessitates thorough etiological investigation.
  • Dihydroxy adenine (DHA) crystalline nephropathy is a rare inherited disorder of purine metabolism.

Observation:

  • A 30-year-old woman presented with acute kidney injury, edema, and hypertension, alongside a history of childhood nephrolithiasis.
  • Renal biopsy revealed chronic interstitial nephritis with characteristic greenish-brown refractile crystals.
  • Metabolic work-up was negative, prompting consideration of genetic causes.

Findings:

  • Spectrophotometry confirmed deficient Adenine phosphoribosyl-transferase (APRT) enzyme activity in red blood cell lysates.
  • Genetic analysis identified a novel missense mutation in the APRT gene (exon 3) in the patient and her family.
  • This mutation is associated with dihydroxy adenine crystalline nephropathy, a rare cause of nephrolithiasis and CKD.

Implications:

  • Highlights the importance of considering DHA crystalline nephropathy in young patients with unexplained nephrolithiasis and CKD.
  • Emphasizes the role of genetic testing in diagnosing rare inherited kidney diseases.
  • Reports the first identification of this specific APRT gene mutation in India, contributing to global genetic databases.