WISSLER SYNDROME Meaning and
Definition
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Wissler Syndrome, also known as "Wissler-Fanconi syndrome" or "Fanconi-Bickel syndrome," is a rare genetic disorder characterized by impaired renal function and a range of metabolic abnormalities. It is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the defective gene, one from each parent.
The syndrome primarily affects the functioning of the kidneys, leading to a reduced ability to reabsorb essential substances such as glucose, amino acids, phosphates, and bicarbonates. As a result, these substances are abnormally excreted in the urine, causing renal tubular dysfunction. This dysfunction can lead to a variety of clinical manifestations, including glycosuria (excretion of glucose in the urine), aminoaciduria (excretion of amino acids), and phosphaturia (excretion of phosphates).
Additionally, individuals with Wissler Syndrome often exhibit growth retardation, hepatomegaly (enlarged liver), hypophosphatemic rickets (a condition characterized by weakened bones due to low levels of phosphate), and an increased tendency to develop renal stones.
Diagnosis of Wissler Syndrome typically involves clinical evaluation, assessment of renal function, and genetic testing to identify the specific gene mutations responsible for the disorder.
Treatment of Wissler Syndrome mainly focuses on managing the symptoms and complications associated with renal dysfunction. This may include dietary modifications, such as phosphate and bicarbonate supplementation, and monitoring of renal function to prevent the progression of kidney damage.
In conclusion, Wissler Syndrome is a rare genetic disorder characterized by impaired renal function, metabolic abnormalities, and a range of clinical manifestations affecting various organ systems.
Common Misspellings for WISSLER SYNDROME
- qissler syndrome
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- eissler syndrome
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- 2issler syndrome
- wussler syndrome
- wjssler syndrome
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- wiesler syndrome
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- wisaler syndrome
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Etymology of WISSLER SYNDROME
There doesn't appear to be any evidence of a medical condition or syndrome called "Wissler Syndrome". It is highly likely that you are referring to "Wiskott-Aldrich syndrome".
Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder that primarily affects the immune system. It is named after the physicians who first described and identified the syndrome: Dr. Alfred Wiskott, a German pediatrician, and Dr. Robert Anderson Aldrich, an American pediatrician.
The term "Wiskott-Aldrich syndrome" was first coined in the medical literature in 1937 by Dr. Aldrich, who expanded on the initial observations made by Dr. Wiskott in 1933. The syndrome is characterized by a triad of symptoms, including eczema, immune deficiency, and a low platelet count (thrombocytopenia).
