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Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. [ 5 ] Mutations in the PKHD1 (chromosomal locus 6p12.2) cause ARPKD.
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 ...
Juvenile nephronophthisis is the juvenile form of nephronophthisis that causes end stage kidney disease around the age of 13; infantile nephronophthisis and adolescent nephronophthisis cause ESKD around the ages of 1 and 19, respectively.
Sarcoidosis: This disease does not usually affect the kidney but, on occasions, the accumulation of inflammatory granulomas (collection of immune cells) in the glomeruli can lead to nephrotic syndrome. Syphilis: kidney damage can occur during the secondary stage of this disease (between 2 and 8 weeks from onset).
In healthcare, a differential diagnosis (DDx) is a method of analysis that distinguishes a particular disease or condition from others that present with similar clinical features. [1] Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient , or, at least, to consider any imminently life ...
Causes of chronic kidney disease include diabetes, high blood pressure, glomerulonephritis, and polycystic kidney disease. [5] [6] Risk factors include a family history of chronic kidney disease. [2] Diagnosis is by blood tests to measure the estimated glomerular filtration rate (eGFR), and a urine test to measure albumin. [8]
There must be a differential diagnosis done for GCKD because it can appear so similar to other kidney disease. To differentiate it from autosomal recessive polycystic disease it is found there is abnormal medullary pyramids in autosomal recessive polycystic kidney disease but not GCKD. [ 3 ]
[27] [30] Medical imaging of the kidneys, generally by ultrasonography, is recommended as part of a differential diagnosis if there is suspicion of urinary tract obstruction, urinary tract infection, kidney stones or polycystic kidney disease. [31] Conformation kidney biopsy should only be performed if non-diabetic kidney disease is suspected.