These home medical tests may be relevant to Zellweger Syndrome:
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Assessment of the renal and urologic systems begins with an accurate patient history and requires a thorough physical examination and certain laboratory data and test results from invasive and noninvasive procedures. When obtaining a patient history, ask about symptoms that pertain specifically to the pathology of the renal and urologic systems, such as frequency or urgency, and about the presence of any systemic diseases that can produce renal or urologic dysfunction, such as hypertension, diabetes mellitus, or bladder infections. Family history may also suggest a genetic predisposition to certain renal diseases, such as glomerulonephritis or polycystic kidney disease. Also, ask what medications the patient has been taking; abuse of analgesics or antibiotics may cause nephrotoxicity.
The first step in physical examination is careful observation of the patient’s overall appearance, because renal disease affects all body systems. Examine the patient’s skin for color, turgor, intactness, and texture; mucous membranes for color, secretions, odor, and intactness; eyes for periorbital edema and vision; general activity for motion, gait, and posture; muscle movement for motor function and general strength; and mental status for level of consciousness, orientation, and response to stimuli. (See Common renal symptoms.)
Renal disease causes distinctive changes in vital signs: hypertension due to fluid and electrolyte imbalances and hyperactivity of the renin-angiotensin system; a strong, fast, irregular pulse due to fluid and electrolyte imbalances; hyperventilation to compensate for metabolic acidosis; and an increased susceptibility to infection due to overall decreased resistance. Palpation and percussion may reveal little because the kidneys and bladder are difficult to palpate unless they are enlarged or distended.
Source: Professional Guide to Diseases (Eighth Edition), 2005
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