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Both male and females have been noted to be affected by hypoparathyroidism, sensorineural deafness, and renal disease. [1] However, specific symptoms and severity can vary. Around 65% of people with Barakat syndrome have hypoparathyroidism, sensorineural deafness and kidney disease together. [5]
Dent's disease (or Dent disease) is a rare X-linked recessive inherited condition that affects the proximal renal tubules [1] of the kidney. It is one cause of Fanconi syndrome , and is characterized by tubular proteinuria , excess calcium in the urine , formation of calcium kidney stones , nephrocalcinosis , and chronic kidney failure .
Minimal change disease (MCD), also known as lipoid nephrosis or nil disease, among others, is a disease affecting the kidneys which causes nephrotic syndrome. [1] Nephrotic syndrome leads to the loss of significant amounts of protein to the urine (proteinuria), which causes the widespread edema (soft tissue swelling) and impaired kidney function commonly experienced by those affected by the ...
Estimates of the prevalence of Gitelman syndrome range from 1 in 80,000 to 1 in 500 people, depending on the population. [25] [26] The ratio of men to women affected is 1:1. This disease is encountered typically after the 1st decade of life, i.e., during adolescence or adulthood. However, it can occur in the neonatal period.
Alport syndrome is a genetic disorder [1] affecting around 1 in 5,000–10,000 children, [2] characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. [3] Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal.
Tubulopathy is a disease affecting the renal tubules of the nephron. [ 1 ] Tubulopathic processes may be inflammatory or noninflammatory, though inflammatory processes are often referred to specifically as tubulitis .
The term nephrocalcinosis is used to describe the deposition of both calcium oxalate and calcium phosphate. [1] It may cause acute kidney injury. It is now more commonly used to describe diffuse, fine, renal parenchymal calcification in radiology. [2] It is caused by multiple different conditions and is determined by progressive kidney dysfunction.
About one in ten people have chronic kidney disease. In Canada 1.9 to 2.3 million people were estimated to have CKD in 2008. [69] CKD affected an estimated 16.8% of U.S. adults aged 20 years and older in the period from 1999 to 2004. [101] In 2007 8.8% of the population of Great Britain and Northern Ireland had symptomatic CKD. [102]