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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

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Urology syndrome l.jpg

Urology Syndrome

Brent Zamzow, DO


Eagle barrett syndrome l.jpg

Eagle-Barrett Syndrome

  • Prune Belly Syndrome

    • Cryptorchidism, loose abdominal wall, dilated urinary tracts

      • Pneumonia if don’t fix abdominal wall

      • 5% female


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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


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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 Wilm’s 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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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


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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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Behcet’s 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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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


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Hinman’s 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 >1L w/ no urge

    • Female <30 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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Young’s 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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Kallmann’s 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


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