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Urology Syndrome. Brent Zamzow, DO. Eagle-Barrett Syndrome. Prune Belly Syndrome Cryptorchidism, loose abdominal wall, dilated urinary tracts Pneumonia if don’t fix abdominal wall 5% female. Beckwith-Weideman syndrome.

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urology syndrome

Urology Syndrome

Brent Zamzow, DO

eagle barrett syndrome
Eagle-Barrett Syndrome
  • Prune Belly Syndrome
    • Cryptorchidism, loose abdominal wall, dilated urinary tracts
      • Pneumonia if don’t fix abdominal wall
      • 5% female
beckwith weideman syndrome
Beckwith-Weideman syndrome
  • Macroglossia, macrosomia (>90%ile ht & wt), midline abdominal wall defects, ear pits, hypoglycemia
    • Why important?
      • Increased incidence of Wilm’s tumor, adrenal cortical carcinoma
bartter syndrome
Bartter syndrome
  • Congenital childhood renal disease
    • Metabolic acidosis, hypereninemic hyperaldosteronism, hypokalemia
      • Muscle weakness, polyuria, growth retardation, constipation, kidney stones
      • Potassium & salt-wasting
drash syndrome
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 Wilm’s tumor
vater syndrome
VATER syndrome
  • Verterbral anomalies
    • Anal atresia
    • Tracheo-Esophageal fistula
    • Renal anomaly
    • Why important?
      • Increased incidence of Horseshoe Kidney
shy bladder syndrome
Shy Bladder syndrome
  • Inability to urinate w/ people around
    • Paruresis
    • Social phobia according to DSM-IV
        • www.shybladder.org
turner syndrome
Turner syndrome
  • XO - female
    • Why important?
      • Increased incidence of Horseshoe Kidney
      • Infertility
edward syndrome
Edward syndrome
  • Trisomy 18
    • Why important?
      • Increased incidence of Horseshoe Kidney
klinefelter syndrome
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
mayer rokitansky kuster hauser syndrome
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
nelson s syndrome
Nelson’s syndrome
  • Who gets it?
    • Rapidly enlarging pituitary tumor after B/L adrenalectomy
      • 10-20% of pts who get B/L adrenalectomy for Cushing’s syndrome
        • Chromophobe adenoma
    • Headache, hyperpigmentation
stauffer syndrome
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
behcet s syndrome
Behcet’s syndrome
  • Chronic immune vasculitis
    • Apthous ulcers, genital ulcers, uveitis
hematuria dysuria syndrome
Hematuria-Dysuria syndrome
  • Most common complication of gastrocystoplasty
    • Hematuria & dysuria w/o infections
reiter s syndrome
Reiter’s 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
hinman s syndrome
Hinman’s Syndrome
  • Nonneurogenic neurogenic bladder
    • Dysfunctional voiding
      • Bladder/sphincter dysfunction w/ no neurologic cause
      • CIC
fowler syndrome
Fowler Syndrome
  • Urinary retention w/ no neurologic disease
    • Bladder capacity >1L w/ no urge
    • Female <30 yo, PCOS
    • EMG of striated sphincter – complex repetitive discharges & decelerating bursts
    • Treat w/ Interstim
ehlers danlos syndrome
Ehlers-Danlos Syndrome
  • Connective tissue disease
    • skin fragility, skin hyperextensibility, and joint mobility
    • Bladder diverticuli
young s syndrome
Young’s Syndrome
  • Chronic sinusitis, bronchiectasis, obstructive azospermia
    • Abnormally viscous mucus
    • Excess secretions – block epididymis
      • Treat w/ vasoepididymostomy
lesch nyhan syndrome
Lesch-Nyhan syndrome
  • X-linked recessive
    • Loss of enzyme hypoxanthine guanine phosphoribosyl transferase
      • Self mutilation
    • Hyperuricemia & uric acid stones
      • Treat w/ allopurinol
kallmann s syndrome
Kallmann’s syndrome
  • Anosmia, small testes, cryptorchidism, color blindness, hypogonadotropic hypogonadism
    • GnRH secretion failure by hypothalamus causing testicular failure
birt hogg dube syndrome
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
menkes syndrome
Menkes syndrome
  • Congenital problem w/ copper metabolism
    • High incidence of bladder diverticula, UTI, UPJ obstruction, VUR, cryptorchidism
      • Treat tics w/ CIC