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In all its forms, congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for about 95% of diagnosed cases of CAH. [2] Unless another specific enzyme is mentioned, "CAH" in nearly all contexts refers to 21-hydroxylase deficiency. (The terms "salt-wasting CAH", and "simple virilizing CAH" usually refer to subtypes of this ...
Scleroderma in pregnancy is a complex situation; it increases the risk to both mother and child. [48] Overall, scleroderma is associated with reduced fetal weight for gestational age. [ 48 ] The treatment for scleroderma often includes known teratogens such as cyclophosphamide, methotrexate, mycophenolate , etc., so careful avoidance of such ...
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...
[5] Digestive tract Endoscopic image of peptic stricture, or narrowing of the esophagus near the junction with the stomach due to chronic gastroesophageal reflux: This is the most common cause of dysphagia, or difficulty swallowing, in scleroderma. Diffuse scleroderma can affect any part of the gastrointestinal tract. [10]
Chronic hypertension is a type of high blood pressure in a pregnant woman that is pre-existing before conception, diagnosed early in pregnancy, or persists significantly after the end of pregnancy. It affects about 5% of all pregnancies and can be a primary disorder of essential hypertension or secondary to another condition; it is not caused ...
Gestational hypertension or pregnancy-induced hypertension (PIH) is the development of new hypertension in a pregnant woman after 20 weeks' gestation without the presence of protein in the urine or other signs of pre-eclampsia. [1] Gestational hypertension is defined as having a blood pressure greater than 140/90 on two occasions at least 6 ...
Clinical features depend on the molecular pathology of the particular CDG subtype. Common manifestations include ataxia; seizures; retinopathy; liver disease; coagulopathies; failure to thrive (FTT); dysmorphic features (e.g., inverted nipples and subcutaneous fat pads); pericardial effusion, skeletal abnormalities, and hypotonia.
Fanconi syndrome or Fanconi's syndrome (English: / f ɑː n ˈ k oʊ n i /, / f æ n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney.The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals), or by adverse drug reactions. [2]