Genetic Diseases of the Kidney

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Hereditary nephritis is usually caused by a defective gene on the X chromosome female sex chromosome , but it sometimes results from an abnormal gene on a nonsex autosomal chromosome. Other factors influence how severe the disorder is in a person who has the defective gene.

Hereditary nephritis can cause chronic kidney disease , sometimes with loss of most kidney function kidney failure.

Genetics & Kidney Disease

Females with the defective gene on one of their two X chromosomes usually do not have symptoms, although their kidneys may function somewhat less efficiently than normal. Most of these females have some blood in the urine. Occasionally, a female loses most kidney function kidney failure. Males with the defective gene on their one X chromosome develop more severe problems because males do not have a second X chromosome to compensate for the defect.

Males usually develop kidney failure between the ages of 20 and 30, but in some males, the defective gene does not cause kidney failure until after age Hereditary nephritis can affect other organs.

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Hearing problems, usually an inability to hear sounds in the higher frequencies, are common. Cataracts can also occur, although less often than hearing loss.

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Abnormalities of the corneas, lenses, or retina sometimes cause blindness. Other problems include a low number of platelets in the blood thrombocytopenia and abnormalities that affect several nerves polyneuropathy.

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Urine is tested. Diagnosis is suggested in people who have blood in the urine, particularly if an abnormality of hearing or vision or a family history of chronic kidney disease is present.

Inherited Genetic Disorders, genetic diseases GeneticDiseases of the Kidney

Biopsy of the kidney is done. Sometimes a biopsy of the skin is also needed in people who have family members with hereditary nephritis.

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Although not yet widely available, techniques for evaluating gene mutations may become the diagnostic techniques of choice. Roughly half of all cases of CKD in children are caused by birth defects, such as an underdeveloped or missing kidney. CKD can also result from hereditary diseases, infection, toxic exposures, and autoimmune disorders. In many patients, the cause cannot be determined.


Gharavi, together with lead author Miguel Verbitsky, PhD, associate research scientist, and their colleagues, hypothesized that copy number variations CNVs —gain or loss of bits of DNA—might provide insights into the cause of CKD in children. The data were compared with genomic data on 21, healthy pediatric and adult controls.

The researchers found significant CNVs in 31, or 7. Many of the other CNVs that were uncovered were associated with developmental delays, intellectual disabilities, and seizure disorders. Of the 31 children with significant CNVs, 28 had genetic diagnoses that differed from the clinical diagnosis or that added information that would have altered the care of the patient, according to the study. The findings also shed light on why children with CKD tend to perform less well in school than their peers.

But our data suggest that these kids may be underperforming because of an underlying genetic lesion that affects both kidney and neurologic function.

Hereditary Nephritis - Kidney and Urinary Tract Disorders - MSD Manual Consumer Version

Read the Spanish language version of the release. Columbia University Medical Center provides international leadership in basic, preclinical, and clinical research; medical and health sciences education; and patient care. The medical center trains future leaders and includes the dedicated work of many physicians, scientists, public health professionals, dentists, and nurses at the College of Physicians and Surgeons, the Mailman School of Public Health, the College of Dental Medicine, the School of Nursing, the biomedical departments of the Graduate School of Arts and Sciences, and allied research centers and institutions.

Genetic Diseases of the Kidney Genetic Diseases of the Kidney
Genetic Diseases of the Kidney Genetic Diseases of the Kidney
Genetic Diseases of the Kidney Genetic Diseases of the Kidney
Genetic Diseases of the Kidney Genetic Diseases of the Kidney
Genetic Diseases of the Kidney Genetic Diseases of the Kidney
Genetic Diseases of the Kidney Genetic Diseases of the Kidney

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