Polycystic autosomal recessive

Qin, H., Rosenbaum, J.L. and Barr, M.M. (2001) An autosomal recessive polycystic kidney disease gene homolog is involved in intraflagellar transport in C. elegans ciliated sensory neurons. Curr. Biol. 11,... 

This polycystic degeneration is an inherited autosomal recessive disorder and its occurrence can be perinatal (at birth, renal cystic changes in 90%) neonatal (after ca. 1 month, renal cysts in 60%) and infantile (3-6 months of life, renal cysts in about 25% of cases). The incidence... 

Nephrogenic Diabetes Insipidus. Failure of the kidney to respond to normal or increased concentrations of AVP can cause NDI. In the majority of these patients, AVP is mcapable of stimulating cychc adenosine monophosphate (cAMP) formation. Two causes have been described for this disorder (1) mutation in the vasopressin receptor and (2) mutations in the aquaporin-2 water channels. Hie vasopressin receptor mutation form of NDI is an X-chromosome-linked disorder that mostly affects males. Females are more likely to have the aquaporin-2 water channel gene defect on chromosome 12,ql2-13, which produces an autosomal recessive disease. Acquired forms of NDI may be caused by metabolic disorders (hypokalemia, hypercalcemia, and amyloidosis), drugs (hthium, demeclocycline, and barbiturates), and renal diseases (polycystic disease and chronic renal failure). NDI may also be seen in the absence of these factors (idiopathic). 

Esophageal varices in children are a manifestation of portal hypertension that causes hepatofugal flow through esophageal collateral veins to drain into the superior vena cava. The most common children s diseases that cause portal hypertension include umhilical venous catheterization, biliary atresia, alpha-1 antitrypsin deficiency, autosomal recessive polycystic renal disease and cystic fibrosis. 

Autosomal Recessive Polycystic Kidney Disease (ARPKD) 194... 

Kaplan BS, Kaplan P, Dechadarievan JP et al (1988) Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within one family. Am J Med Genet 29 639-647... 

Kaplan BS, Fay J, Shah V et al (1989) Autosomal recessive polycystic kidney disease. Pediar Nephrol 3 43-49 Kaplan BS, Kaplan P, Rosenberg HK et al (1989) Polycystic kidney diseases in childhood. J Pediatr 115 867-880 Kaplan BS, Gordon I, Pincott J et al (1989) Familial hypoplastic glomerulocystic kidney disease a definite entity with dominant inheritance. Am J Med Genet 34 569-573... 

Zerres K, Muecher G, Becker J et al (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) molecular genetics, clinical experience, and fetal morphology. Am J Med Genet 76 137-144... 

Fig. 13.15. Autosomal recessive polycystic kidney. 3rd trimester. Sagittal scan of a kidney (the contra-lateral kidney had the same appearance). Massively enlarged left kidney (7 cm) with increased ehcogenicity and reversed cortico-medullary differentiation. Oligohydramnios was obvious...

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