[eduardshraibman]

внутриутробное УЗИ иногда очень отличается от "послеуртобного".В 20-30% случаев и при аут.рецессивном заболевании при рождении функции почек нормальные. Поэтому в сначала родите, а затем в зависимости от результатов УЗИ и более доступных анализов крови и мочи, отражающих функцию почек будет решаться дальнейшая тактика
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Blood and urine studies are useful in evaluating patients with both types of polycystic kidney disease, although none are diagnostic. Based on the patient's clinical presentation, these studies are performed at diagnosis and are repeated as appropriate during the disease course.

The glomerular filtration rate (GFR) is measured with various tests. The most common is the serum creatinine level test. Creatinine is a product of creatine and phosphate metabolism in the muscle and is therefore produced in quantities directly proportional to muscle mass. Normal values of creatinine depend on the patient's muscle mass and, therefore, age and build of the children. Acute or gradual loss of renal function causes an increase in the serum creatinine concentration.

Blood urea nitrogen (BUN) levels in plasma are also increased in renal dysfunction. However, this is not as reliable a test as the serum creatinine level test, because BUN levels are also elevated in cases of intravascular depletion, increased protein intake, catabolism, and GI hemorrhage and may be reduced in chronic liver disease.

Liver function is usually normal. However, liver function test findings are often abnormal in the later stages of the disease, particularly in autosomal recessive polycystic kidney disease.

Serum albumin levels ....
Urine analysis findings can be normal. Microhematuria or macrohematuria may be present. Macrohematuria is more common in autosomal dominant polycystic kidney disease. Gross hematuria often develops after minor trauma to the flank. Proteinuria, pyuria, and, sometimes, evidence of urinary concentrating defects, such as prerenal azotemia, may be present. Metabolic acidosis may be present.
Maternal alpha fetoprotein (AFP) is increased, and amniotic fluid trehalase activities are potential markers for autosomal recessive polycystic kidney disease in utero.

Serum electrolyte levels may reveal further evidence of glomerular and tubular dysfunction in polycystic kidney disease....