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Gitelman's syndrome is a rare and mild inherited defect in the distal convoluted tubule of the kidneys caused by a defect in the kidney's ability to reabsorb magnesium, sodium, potassium, and chloride into the bloodstream. This is due to a mutation in the gene that codes for one of the electrolyte co-transporters in the kidney. The absence of this co-transporter may account for surplus loss of magnesium and potassium and insufficient secretion of calcium from the kidneys.
Symptoms of Gitelman's syndrome include excessive urination, excessive thirst, low blood sodium level, low blood magnesium level, salt craving, muscle cramps, muscle weakness, fatigue, dizziness, nocturia, polydipsia and many more.
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What are alternative names for Patau syndrome?
Patau's Syndrome Trisomy 13 Syndrome Trisomy D Syndrome Trisomie 13 Trisomee Trisome Trisomic Chromosomal Abnormalities, Chromosome Anomalies, Disorder Fetal Aneuploidy
Does Missy Marlowe have Turner's syndrome?
Yes and she is also the spokesperson for the Turner Syndrome Society.
What is Restless Leg Syndrome's medical name?
Restless Leg Syndrome (RLS) is also known in the medical community as Ekbom Syndrome and Wittmaack-Ekbom Syndrome. Anxietas Tiblarum and Anxietas Tibialis are also medical names for Restless Leg Syndrome.
What are some alternative names for Cri du chat syndrome?
Cri du chat syndrome is a rare disorder which affects persons missing a part of chromosome 5. Some other names are cat cry syndrome, 5P deletion syndrome, and monosomy 5P.
Which of the following are example(s) of trisomy---Turner Syndrome Down's Syndrome or Klinefelter's Syndrome?
Trisomy means having three copies of a chromosomes. Turner's syndrome is NOT an example of trisomy. Someone with Turner's syndrome has only one X chromosome. Down's syndrome IS an example of trisomy. Someone with Down's syndrome has 3 copies of chromosome 21. Klinefelter's syndrome is a tricky one. On one hand, it would be considered trisomy because they have 3 sex chromosomes. However, they are not all the SAME sex chromosomes. Someone with Klinefelter's has 2 X chromosomes and one Y chromosome.
What is syndactyly a symptom of?
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome
Which syndrome is the complete opposite of Lima syndrome?
Stockholm syndrome.
What other conditions could an infant with syndactyly have?
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.
Is xxxy syndrome barr-shaver-carr syndrome?
XXXY Syndrome and Barr-Shaver-Carr Syndrome are the same.
What is the medical term meaning the result of prolonged exposure to high levels of cortisol?
Cushing's Syndrome
What is a chromosomal disorder that could result from nondisjunction?
Disorders, such as Down's Syndrome, are caused by nondisjunction.
Klinefelter syndrome is what?
what is kinefelter syndrome?
Is there such a syndrome as 9p syndrome?
yes there is.
Is Angelman syndrome the same as Down syndrome?
Angelman syndrome is a genetic disorder, as is Down syndrome. But they are not the same. Angelman Syndrome involves a deletion of Chromosome 15, whereas people with Down syndrome have an extra copy of Chromosome 21.
By what other names is fragile X syndrome known?
also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome
Is Down syndrome the same as Cohen syndrome?
no
What is all ports syndrome?
Alport Syndrome
