Cystic polycystic kidney disease

A study of an extended family in Venezuela with Huntington s chorea demonstrated that family members with the disease show a distinct and characteristic pattern of restriction fragment lengths, leading to a new screening test. The same methods of investigation revealed patterns for cystic fibrosis, adult polycystic kidney disease, Due lien nc muscular dystrophy, and others. 

Small molecule modulators of CFTR function may be useful in the treatment of cystic fibrosis, secretory diarrhea and polycystic kidney disease. The most common mutation in the CFTR gene, F508 deletion (AF508), causes retention of F508-CFTR in the endoplasmic reticulum and... 

Polycystic kidney diseases can also be detected in utero. In the typical presentation of the recessive type, the kidneys are very large (4-4 - -F8 SD) with increased echogenicity and lack of cortico-medul-lary differentiation more unusual presentations include the presence of medullary cysts or reversed cortico-medullary differentiation (Fig. 13.15) oligohydramnios and lung hypoplasia indicate a poor prognosis. In the dominant type, the renal cortex appears hyperechoic, increasing the cortico-medul-lay differentiation. Cysts may be detected in utero. Other cystic diseases are usually related to syndromes (i.e., Meckel-Gruber syndrome and Bardet-Biedl syndrome) (Avni et al. 2006). 

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