Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 6-year-old girl with Turner's syndrome presented with recent onset of proteinuria and pedal edema. There was no history of arthritis, fever, or abdominal pain. A physical examination revealed the stigmata of Turner's syndrome, hepatomegaly, and pedal edema. The urine contained 4+ protein without red blood cells or casts, and the BUN and creatinine were mildly elevated. The serum lipids were normal. An excretory urogram showed bilaterally enlarged, smooth kidneys without calyceal distortion. Because the proteinuria failed to respond after 1 month of steroid therapy, a diagnostic procedure was performed.
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PMID:A six-year-old girl with Turner's syndrome and proteinuria. 734 31

Noonan syndrome affects approximately 1 in 1500 live births. Affected individuals may have characteristic phenotypic features some of which are shared with Turner syndrome, although in Noonan syndrome the karyotype is normal, unlike the 45X karyotype of Turner syndrome. Renal anomalies have been described in both syndromes and in Turner syndrome they are both common and frequently severe. The frequency and spectrum of renal anomalies in Noonan syndrome have not been well documented. Upper abdominal ultrasound was performed to establish the frequency of renal anomalies in Noonan syndrome. Forty-four individuals with Noonan syndrome, aged between 9 months and 38 years, were studied. Sixteen scans (36%) were normal and 28 (64%) were abnormal. Five patients (11%) had renal anomalies. Twenty-three patients (53%) had splenomegaly, 6 of these with associated hepatomegaly. One patient had a choledochal cyst and a midgut malrotation. The frequency of renal anomalies in Noonan syndrome is 11%, which is lower than that seen in Turner syndrome. However, splenomegaly with or without hepatomegaly occurs commonly. Choledochal cyst and solitary kidney, previously unreported in Noonan syndrome, are documented.
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PMID:Abdominal ultrasound in Noonan syndrome: a study of 44 patients. 841 65