Autosomal nephrology - GrepMed

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1411 results

Classification of Diabetes Insipidus

Central or neurogenic diabetes insipidus:
- Congenital - Structural malformations affecting the hypothalamus

or pituitary, Autosomal ... in AVPR2 gene, Autosomal ... Classification #Types #Nephrology

Gitelman Syndrome Pathophysiology
Gitelman Syndrome is a rare autosomal recessive salt-losing tubulopathy with a prevalence of 1-

Syndrome is a rare autosomal ... Pathophysiology #nephrology

REPRISE Trial - Tolvaptan in CKD - Visual Abstract

Does tolvaptan slow the progression of autosomal dominant

progression of autosomal ... VisualAbstract #EBM #Nephrology

Gitelman Syndrome - Diagnosis and Workup
Blood Work:
- Hypokalemia
- Hypomagnesemia
- Metabolic Alkalosis
- Elevated

family history of autosomal ... Diagnosis #Workup #nephrology

Autosomal Dominant Inheritance
- Most common mode of Mendelian inheritance
- Affected individual carries the

Autosomal Dominant ... one of a pair of autosomes ... #Autosomal #Dominant

Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
-

fibrillin function - Autosomal

Causes of Dilated Cardiomyopathy DCMP - Differential Diagnosis Algorithm
Idiopathic DCMP: Viral, Inflammatory cardiomyopathy, Genetic causes, Unknown

Genetically determined: Autosomal ... dominant, Autosomal

$Inherited Non-hemolytic Disorders of Hyperbilirubinemia == Disorders of Conjugation == Gilbert Syndrome: • 5-10% of the population$

syndrome • An autosomal ... a super rare, autosomal ... Type II CN is an autosomal ... Syndrome: • Autosomal ... Dubin-Johnson: • Autosomal

Von Recklinghausen's Syndrome - Neurofibromatosis Type 1 (NF1)
Hereditary multiple neurofibromas.
Autosomal dominant with high rate

Autosomal dominant

Malignant Hyperpyrexia
A rare complciation of halothane or suxamethonium.
Predisposition to developing this is inherited (autosomal dominant).

#Malignant #Hyperpyrexia

is inherited (autosomal

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