Analysis Tools
mortality/aging
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• fewer than expected homozygotes are found, no time of lethality is provided
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renal/urinary system
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• microcystic tubules
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• mild
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• mild
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• mild increase in Mg2+ excretion
• no alterations are detected in Ca2+, protein, or glucose excretion
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• urine osmolality is decreased and water deprivation fails to increase urine osmolality
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• significantly lower at 6 weeks of age
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• in males fractional excretion of urate is about 100% indicating severely impaired urate reabsorption
• in females fractional excretion of urate is about 150% indicating severely impaired urate reabsorption and increased tubular excretion
• in males and females, 24 hr urate excretion is increased 20 to 30 fold
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• severe chronic interstitial fibrosis is seen in fibrotic areas
• granular precipitates in atrophic tubules are surrounded by severe chronic inflammation
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• progressive and severe chronic tubulo-interstitial nephritis
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• cortical atrophy
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• at 16 weeks of age interstitial fibrosis with tubular atrophy is seen in about 50% of the superficial renal cortex
• granular precipitates in atrophic tubules are surrounded by interstitial fibrosis
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• at 16 weeks of age interstitial fibrosis with tubular atrophy is seen in about 50% of the superficial renal cortex
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• newborns display discrete signs of tubular dilation
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• develop obstructive intratubular urate lithiasis by 2 weeks of age
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• severely impaired urate reabsorption in the kidney
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homeostasis/metabolism
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• plasma urate levels are increased
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• mild increase
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• mild
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• mild
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• mild increase in Mg2+ excretion
• no alterations are detected in Ca2+, protein, or glucose excretion
|
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• urine osmolality is decreased and water deprivation fails to increase urine osmolality
|
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• significantly lower at 6 weeks of age
|
|
• in males fractional excretion of urate is about 100% indicating severely impaired urate reabsorption
• in females fractional excretion of urate is about 150% indicating severely impaired urate reabsorption and increased tubular excretion
• in males and females, 24 hr urate excretion is increased 20 to 30 fold
|
behavior/neurological
polydipsia
(
J:153089
)
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• increase in water intake
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growth/size/body
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• beyond 37 weeks of age, males weigh less than controls
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• microcystic tubules
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immune system
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• severe chronic interstitial fibrosis is seen in fibrotic areas
• granular precipitates in atrophic tubules are surrounded by severe chronic inflammation
|
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• progressive and severe chronic tubulo-interstitial nephritis
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