· Hypokalemic, hypochloremic metabolic alkalosis
· Hyperreninemia with normal blood pressure
· Decreased response to pressors
· Impaired renal drug excretion
· Presents in infancy as failure to thrive, polyuria, polydipsia
Subscribe to:
Post Comments (Atom)
Labels
- 3-Methylcrotonyl-CoA Carboxylase Deficiency(3-MCCD) (1)
- 4p- Syndrome (1)
- Aarskog Syndrome (1)
- Aase Syndrome (1)
- Aase-Smith Syndrome (1)
- Achondrogenesis Type 1 (1)
- Adrenoleukodystrophy (4)
- Adrenomyeloneuropathy (1)
- Aicardi Syndrome (1)
- Alagille Syndrome (1)
- Albers - Schönberg Syndrome (1)
- Albright - Butler Syndrome (1)
- Alexander Disease (2)
- Alström Syndrome (1)
- Amyoplasia Congenita Disruptive Syndrome (1)
- Analbumenia (1)
- Andersen Disease (1)
- Anderson Syndrome (1)
- Angelman Syndrome (1)
- Antley-Bixler Syndrome (1)
- Apert Syndrome (1)
- Arnold - Chiari Malformation (1)
- Arteriohepatic Dysplasia (1)
- Arthogryposis Multiplex Congenita (2)
- Ataxia - telangiectasia (1)
- Bardet - Biedl Syndrome (1)
- Bartter Syndrome (1)
- Bassen - Kornzweig Syndrome (1)
- Beckwith - Wiedemann Syndrome (1)
- Behçet Syndrome (1)
- Binder Syndrome (1)
- Blackfan-Diamond Syndrome (3)
- Bloch-Sulzberger Syndrome (1)
- C Syndrome (1)
- Canavan Disease (2)
- Cardiac-Limb (1)
- Carney Complex (1)
- Carpenter Syndrome (1)
- Cat Eye Syndrome (1)
- CATCH 22 (1)
- Cerebrohepatorenal Syndrome (2)
- CHARGE Association (1)
- Dandy-Walker Malformation (1)
- DiGeorge Syndrome (1)
- Galactosemia (1)
- Heart-hand (1)
- Holt-Oram (1)
- Hyperostosis (1)
- Krabbe Disease (2)
- Lenz-Majewski (1)
- Lissencephaly Syndrome (1)
- Marble Bones Disease (1)
- Mastocytosis (1)
- Maxillonasal Dysplasia (1)
- Metachromatic Leukodystrophy (2)
- Miller-Dieker Syndrome (1)
- Multisynostotic osteodysgenesis (1)
- Osteopetrosis (1)
- Pelizaeus-Merzbacher Disease (2)
- Peters-Plus Syndrome (1)
- Proteus Syndrome (1)
- Refsum disease (2)
- Rubenstein-Taybi Syndrome (1)
- Shprintzen Syndrome (1)
- Summitt Syndrome (1)
- Takao Syndrome (1)
- Trapezoidocephaly-Synostosis Syndrome (1)
- Velocardiofacial Syndrome (1)
- Wolf-Hirschorn Syndrome (1)
- Zellweger syndrome (2)
No comments:
Post a Comment