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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)
PKD is a general term for two types, each having their own pathology and genetic cause: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The abnormal gene exists in all cells in the body; as a result, cysts may occur in the liver , seminal vesicles , and pancreas .
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 ...
In more rare cases, a mutation in the "aquaporin 2" gene impedes the normal functionality of the kidney water channel, which results in the kidney being unable to absorb water. This mutation is often inherited in an autosomal recessive manner although dominant mutations are reported from time to time [ 2 ] [ 9 ]
Mutations in the three different genes PKD1, PKD2 and PKD3 cause a very similar disorder of the autosomal dominant form of polycystic kidney disease (ADPKD). [5] The PKD3 gene is located on chromosome number 11q12.3; the phenotype MIM number is 600666. PKD3 it is the result of a mutation in the GANAB gene.
APS-1 may be inherited in an autosomal recessive manner. [8] Different mutations are more common in different geographic regions. R139X is a common mutation in Sardinia. [4] R257* is a common mutation in Finland. [5] Both of these mutations are nonsense mutations: the asterisk and the "X" both indicate a stop codon. [7]
In fact, nearly all reported cases of sirenomelia also present with BRA.It is associated with childhood polycystic kidney disease which is autosomal recessive in origin [4] Other anomalies of the classic Potter sequence infant include a parrot beak nose, redundant skin, and the most common characteristic of infants with BRA which is a skin fold ...
Medullary cystic kidney disease (MCKD) is an autosomal dominant kidney disorder characterized by tubulointerstitial sclerosis leading to end-stage renal disease.Because the presence of cysts is neither an early nor a typical diagnostic feature of the disease, and because at least four different gene mutations may give rise to the condition, the name autosomal dominant tubulointerstitial kidney ...