1. Urology Syndrome Brent Zamzow, DO

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

3. Beckwith-Weideman syndrome Macroglossia, macrosomia (>90%ile ht & wt), midline abdominal wall defects, ear pits, hypoglycemia Macroglossia, macrosomia (>90%ile ht & wt), midline abdominal wall defects, ear pits, hypoglycemia Why important? Why important? Increased incidence of Wilm’s tumor, adrenal cortical carcinoma Increased incidence of Wilm’s tumor, adrenal cortical carcinoma

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

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

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

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

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

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

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

11. Mayer-Rokitansky-Kuster-Hauser Syndrome Congenital absence of vagina & abnormal uterus Congenital absence of vagina & abnormal uterus Renal agenesis & skeletal abnormalities common Renal agenesis & skeletal abnormalities common Mullerian agenesis Mullerian agenesis Presents w/ amenorrhea in normal pubertal female Presents w/ amenorrhea in normal pubertal female

12. Nelson’s syndrome Who gets it? Who gets it? Rapidly enlarging pituitary tumor after B/L adrenalectomy Rapidly enlarging pituitary tumor after B/L adrenalectomy 10-20% of pts who get B/L adrenalectomy for Cushing’s syndrome 10-20% of pts who get B/L adrenalectomy for Cushing’s syndrome Chromophobe adenoma Chromophobe adenoma Headache, hyperpigmentation Headache, hyperpigmentation

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

14. Craig Hunter Syndrome

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

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

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

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

19. Fowler Syndrome Urinary retention w/ no neurologic disease Urinary retention w/ no neurologic disease Bladder capacity >1L w/ no urge Bladder capacity >1L w/ no urge Female <30 yo, PCOS Female <30 yo, PCOS EMG of striated sphincter – complex repetitive discharges & decelerating bursts EMG of striated sphincter – complex repetitive discharges & decelerating bursts Treat w/ Interstim Treat w/ Interstim

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

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

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

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

24. Birt-Hogg-Dube syndrome AD AD Xsome 17p11, encodes tumor suppressor protein folliculin Xsome 17p11, encodes tumor suppressor protein folliculin Fibrofolliculomas (hamartoma of hair follicle), trichodiscomas, skin tags, propensity for renal tumors Fibrofolliculomas (hamartoma of hair follicle), trichodiscomas, skin tags, propensity for renal tumors Renal tumors B/L, multiple, chromophobe, oncocytoma Renal tumors B/L, multiple, chromophobe, oncocytoma

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

26. THE END THE END