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by mtarsi

Mitochondrial disease affecting the kidney usually involves the proximal tubules. Ninety percent of oxygen consumption by the kidney is used to generate ATP for Na+/K+ ATPase in the proximal tubules and ascending loop of Henle (Chinnery, 1997). Dysfunction results in renal Fanconi syndrome (Kuwertz-Broking, 2000; Wang, 2000) with urinary losses of electrolytes, glucose, bicarbonate, amino acids, calcium and phosphate, and water. This occurs more often in children than adults. Loss of phosphate can result in rickets and loss of water can produce a dehydrated state.

Jul 07, 2008 Comments: 0
by mtarsi

Cardiac symptoms in mitochondrial disease include rhythm abnormalities described in specific disorders (like heart block in Kearns-Sayre syndrome, Wolff-Parkinson-White syndrome in diseases associated with mtDNA abnormalities) (Towbin, 2006). Cardiomyopathy, a potential complication of many different energy disorders (Scaglia, 2004; Towbin, 2006), can be associated with tachycardia in association with ventricular dysfunction and/or heart failure.

Jul 07, 2008 Comments: 0
by mtarsi

Mitochondrial disease is associated with several types of myopathic heart disease including dilated cardiomyopathy, hypertrophic cardiomyopathy, and left ventricular non-compaction (Scaglia, 2004; Towbin, 2006; Yaplito-Lee, 2007). Cardiac arrhythmias also occur though less commonly. Heart block is a classic complication of Kearns-Sayre syndrome, often requiring placement of pacemaker. Wolff-Parkinson-White syndrome is also described in several maternally-inherited disorders (Towbin, 2006).

Jul 07, 2008 Comments: 0
by mtarsi

Stroke refers to a neurovascular event impacting the distribution of a major cerebral blood vessel; a stroke-like episode does not involve the distribution of a major vessel. Symptoms of either can include focal weakness, speech disturbances, visual field defects (e.g., homonymous hemianopsia), hemihypesthesia, migraine, and/or seizures.

Jul 07, 2008 Comments: 0
by mtarsi

It may not be clear what a patient or parent means when they describe being unsteady or having poor balance. If the symptom affects ambulation and is progressive in nature, it may represent ataxia, a feature of mitochondrial disease, although the intensity of the symptom may vary.

Fatigue when pronounced can be associated with an increase in "clumsiness" resulting in balance problems, tripping and falling. Patients may show more energy in the morning; as fatigue increases over the day, they may experience difficulties with walking.

Jul 07, 2008 Comments: 0
by mtarsi

Patient complaints about their arms and legs generally refer to the muscles and the peripheral nerves. Joint disease is not a common clinical feature in mitochondrial disease. Younger children may have difficulty describing abnormal sensations accurately (like numbness or tingling) and may substitute more familiar terms instead like pain instead (inaccurately).

Jul 07, 2008 Comments: 0
by mtarsi

Patients with mitochondrial disease experience a variety of headache types, including migraine. Other than pain, symptoms include nausea, sometimes severe vomiting (enough to cause dehydration), photophobia and phonophobia, and occasionally an aura. Patients may have lower trigger thresholds and require more aggressive treatment than routine headache-sufferers. Common triggering agents include excessive activity and exhaustion, dehydration or underhydration, and undernutrition with poor calorie intake, or any combination of the above.

Jul 03, 2008 Comments: 0
by mtarsi

Among the most common symptoms of disorders of energy metabolism is exercise intolerance, resulting in reduced stamina often associated with symptoms of pain and/or fatigue and/or heaviness in the active muscle groups.

The ability to exercise depends on a number of factors (Flaherty, 2001):

Jul 03, 2008 Comments: 0
by mtarsi

Mitochondrial disease is associated with a wide range of developmental challenges and behavioral concerns, including autism and attention deficit +/- hyperactivity. Patients are at risk for depressive and bipolar disease and panic disorders (Fattal, 2007), as well as anxiety. There are no specific disorders associated with defects in energy metabolism.

Jul 03, 2008 Comments: 0
by mtarsi

An under-appreciated aspect of mitochondrial disease is the autonomic dysfunction (Zelnik, 1996; Axelrod, 2006) which can impact life on a daily basis. Patients often have some dysregulation of temperature, in which the baseline body temperature often measures in the 96s and 97s and sometimes lower; temperatures can drop even lower during the night. Less often, temperature values at baseline run higher than normal. This is a particularly important piece of information when assessing a mitochondrial patient who is sick with infectious symptoms.

Jul 03, 2008 Comments: 0

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