Urology Syndrome

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Urology Syndrome

• Brent Zamzow, DO

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Eagle-Barrett Syndrome

• Prune Belly Syndrome
• Cryptorchidism, loose abdominal wall, dilated
  urinary tracts
• Pneumonia if dont fix abdominal wall
• 5 female

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Beckwith-Weideman syndrome

• Macroglossia, macrosomia (gt90ile ht wt),
  midline abdominal wall defects, ear pits,
  hypoglycemia
• Why important?
• Increased incidence of Wilms tumor, adrenal
  cortical carcinoma

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Bartter syndrome

• Congenital childhood renal disease
• Metabolic acidosis, hypereninemic
  hyperaldosteronism, hypokalemia
• Muscle weakness, polyuria, growth retardation,
  constipation, kidney stones
• Potassium salt-wasting

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Drash syndrome

• AKA Denys-Drash Syndrome
• Ambiguous genitalia (male pseudohermaphrodite)
• Renal dysgenesis, renal failure by age 3,
  nephrotic syndrome, HTN
• Why important?
• Increased incidence of Wilms tumor

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VATER syndrome

• Verterbral anomalies
• Anal atresia
• Tracheo-Esophageal fistula
• Renal anomaly
• Why important?
• Increased incidence of Horseshoe Kidney

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Shy Bladder syndrome

• Inability to urinate w/ people around
• Paruresis
• Social phobia according to DSM-IV
• www.shybladder.org

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Turner syndrome

• XO - female
• Why important?
• Increased incidence of Horseshoe Kidney
• Infertility

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Edward syndrome

• Trisomy 18
• Why important?
• Increased incidence of Horseshoe Kidney

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Klinefelter syndrome

• 1 in 600 male births
• XXY
• Small firm testes, gynecomastia, elevated urine
  gonadotropins
• Infertility
• Elevated FSH, sclerosis of tubules on testes
  biopsy
• May need testosterone

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Mayer-Rokitansky-Kuster-Hauser Syndrome

• Congenital absence of vagina abnormal uterus
• Renal agenesis skeletal abnormalities common
• Mullerian agenesis
• Presents w/ amenorrhea in normal pubertal female

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Nelsons syndrome

• Who gets it?
• Rapidly enlarging pituitary tumor after B/L
  adrenalectomy
• 10-20 of pts who get B/L adrenalectomy for
  Cushings syndrome
• Chromophobe adenoma
• Headache, hyperpigmentation

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Stauffer Syndrome

• Signs symptoms of nonmetastatic liver
  dysfunction associated w/ RCC
• Fever, fatigue, wt loss
• High alk phos, high bilirubin, hypoalbuminemia,
  prolonged PTT, hypergammaglobulinemia
• Goes away after nephrectomy

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Craig Hunter Syndrome
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Behcets syndrome

• Chronic immune vasculitis
• Apthous ulcers, genital ulcers, uveitis

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Hematuria-Dysuria syndrome

• Most common complication of gastrocystoplasty
• Hematuria dysuria w/o infections

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Reiters Syndrome

• Reactive arthritis
• Polyarthritis, conjunctivitis, nongonococcal
  urthritis (cervicitis in women)
• Systemic inflammatory response triggered by GU or
  GI infection
• NSAIDS, steroids for arthritis
• Balanitis circinata
• Annular rash on glans

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Hinmans Syndrome

• Nonneurogenic neurogenic bladder
• Dysfunctional voiding
• Bladder/sphincter dysfunction w/ no neurologic
  cause
• CIC

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Fowler Syndrome

• Urinary retention w/ no neurologic disease
• Bladder capacity gt1L w/ no urge
• Female lt30 yo, PCOS
• EMG of striated sphincter complex repetitive
  discharges decelerating bursts
• Treat w/ Interstim

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Ehlers-Danlos Syndrome

• Connective tissue disease
• skin fragility, skin hyperextensibility, and
  joint mobility
• Bladder diverticuli

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Youngs Syndrome

• Chronic sinusitis, bronchiectasis, obstructive
  azospermia
• Abnormally viscous mucus
• Excess secretions block epididymis
• Treat w/ vasoepididymostomy

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Lesch-Nyhan syndrome

• X-linked recessive
• Loss of enzyme hypoxanthine guanine
  phosphoribosyl transferase
• Self mutilation
• Hyperuricemia uric acid stones
• Treat w/ allopurinol

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Kallmanns syndrome

• Anosmia, small testes, cryptorchidism, color
  blindness, hypogonadotropic hypogonadism
• GnRH secretion failure by hypothalamus causing
  testicular failure

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Birt-Hogg-Dube syndrome

• AD
• Xsome 17p11, encodes tumor suppressor protein
  folliculin
• Fibrofolliculomas (hamartoma of hair follicle),
  trichodiscomas, skin tags, propensity for renal
  tumors
• Renal tumors B/L, multiple, chromophobe,
  oncocytoma

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Menkes syndrome

• Congenital problem w/ copper metabolism
• High incidence of bladder diverticula, UTI, UPJ
  obstruction, VUR, cryptorchidism
• Treat tics w/ CIC

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• THE END