Recessive polycystic kidney disease

2005-11-15-11 Heron Werner, MD*, Pedro Daltro, MD*, Dorothy Bulas, MD# * Clínica de Diagnóstico por Imagem (CDPI) & Instituto Fernandes Figueira (IFF) – FIOCRUZ – Rio de Janeiro – Brazil
# Professor of Radiology and Pediatrics – Children"s National Medical Center – George Washington University Medical Center – 111 Michigan Ave, NW, Washington D.C. 20010

The polycystic renal disease displays a recessive autosomal inheritance with an early intrauterine manifestation. In cases of dominant autosomal inheritance, the manifestation appears over the second or third decade of life. In a few cases, intrauterine appearance of the disease can occur.

The anomaly was previously called infantile polycystic renal disease. It is characterized by cystic dilation of the renal tubules and is often associated with congenital hepatic fibrosis. It is commonly prenatally visualized, but it can have a later manifestation in some cases. The age at which the pathology comes up is directly associated with the amount of damaged in the renal tubules. When there are 90 percent of renal tubules altered, there is consequently minimal renal function; what leads to a poor postnatal diagnosis.

Causes of recessive renal disease that appear during childhood display in general 10 percent of affected renal tubules. In most premature cases, it is not possible to visualize the bladder and a pronounced oligohydramnios starts up early in the 16th week of gestation. In such a case, there is plenty of room for a gloomy diagnosis by reason of secondary pulmonary hypoplasia.

Meckel-Gruber syndrome is a group of anomalies with very poor prognosis, inherited as an autosomal recessive, presenting in the prenatal the bilateral enlarged echogenic kidneys and other components such as occipital encephalocele, polydactyly and ambiguous external genitalia in males.

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