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Without treatment, children with cystinosis are likely to experience complete kidney failure by about age ten. With treatment this may be delayed into the patients' teens or 20s. Other signs and symptoms that may occur in patients include muscle deterioration, blindness, inability to swallow, impaired sweating, decreased hair and skin ...
Sometimes hair has a tendency to curl after regrowth, resulting in "chemo curls." Severe hair loss occurs most often with drugs such as doxorubicin, daunorubicin, paclitaxel, docetaxel, cyclophosphamide, ifosfamide and etoposide. Permanent thinning or hair loss can result from some standard chemotherapy regimens. [101]
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. [ 1 ] [ 2 ] It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes ...
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 ...
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.
The goal of treatment is to manage the disease and its symptoms, and to avoid or delay complications. Options include pain medication (except ibuprofen and other ‘non-steroidal anti-inflammatory agents (NSAID’s)’ which may worsen kidney function), low protein and sodium diet, diuretics, antibiotics to treat urinary tract infection, or ...
Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. [2] It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the ...
The treatment options for autosomal recessive polycystic kidney disease, given there is no current cure, are: [4] Medications for hypertension; Medications and/or surgery for pain; Antibiotics for infection; Dialysis (if kidney failure is present) Kidney transplantation(in serious cases)
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