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Urology Syndrome

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

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  1. Urology Syndrome Brent Zamzow, DO

  2. Eagle-Barrett Syndrome • Prune Belly Syndrome • Cryptorchidism, loose abdominal wall, dilated urinary tracts • Pneumonia if don’t fix abdominal wall • 5% female

  3. 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

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

  5. 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

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

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

  8. Turner syndrome • XO - female • Why important? • Increased incidence of Horseshoe Kidney • Infertility

  9. Edward syndrome • Trisomy 18 • Why important? • Increased incidence of Horseshoe Kidney

  10. 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

  11. 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

  12. 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

  13. 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

  14. Craig Hunter Syndrome

  15. Behcet’s syndrome • Chronic immune vasculitis • Apthous ulcers, genital ulcers, uveitis

  16. Hematuria-Dysuria syndrome • Most common complication of gastrocystoplasty • Hematuria & dysuria w/o infections

  17. 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

  18. Hinman’s Syndrome • Nonneurogenic neurogenic bladder • Dysfunctional voiding • Bladder/sphincter dysfunction w/ no neurologic cause • CIC

  19. 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

  20. Ehlers-Danlos Syndrome • Connective tissue disease • skin fragility, skin hyperextensibility, and joint mobility • Bladder diverticuli

  21. Young’s Syndrome • Chronic sinusitis, bronchiectasis, obstructive azospermia • Abnormally viscous mucus • Excess secretions – block epididymis • Treat w/ vasoepididymostomy

  22. Lesch-Nyhan syndrome • X-linked recessive • Loss of enzyme hypoxanthine guanine phosphoribosyl transferase • Self mutilation • Hyperuricemia & uric acid stones • Treat w/ allopurinol

  23. Kallmann’s syndrome • Anosmia, small testes, cryptorchidism, color blindness, hypogonadotropic hypogonadism • GnRH secretion failure by hypothalamus causing testicular failure

  24. 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

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

  26. THE END

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