Abstract
Nephronophthisis is an autosomal recessive disease that leads to end-stage renal disease. These days, molecular genetic analysis is used pre-emptively for making a definitive diagnosis in patients who have clinical and radiological data suggestive of the disease. Herein, we are reporting a 12-year-old girl who was genetically diagnosed to have juvenile nephronophthisis, which explained the mystery of the chronic kidney disease in her four affected siblings.
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics*
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Adult
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Child
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Cytoskeletal Proteins
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DNA Mutational Analysis
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Disease Progression
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Female
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Genetic Predisposition to Disease
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Genetic Testing / methods
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Humans
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Kidney Diseases, Cystic / complications
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Kidney Diseases, Cystic / congenital*
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Kidney Diseases, Cystic / diagnosis
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Kidney Diseases, Cystic / genetics
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Kidney Diseases, Cystic / therapy
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Kidney Failure, Chronic / genetics
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Kidney Transplantation
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Male
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Membrane Proteins / genetics*
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Nephritis, Interstitial / genetics
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Pedigree
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Phenotype
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Predictive Value of Tests
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Renal Dialysis
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Sequence Deletion*
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Treatment Outcome
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Young Adult
Substances
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Adaptor Proteins, Signal Transducing
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Cytoskeletal Proteins
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Membrane Proteins
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NPHP1 protein, human
Supplementary concepts
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Nephronophthisis, familial juvenile