Urology SyndromeUrology Syndrome

Brent Zamzow, DOBrent Zamzow, DO

Eagle-Barrett SyndromeEagle-Barrett Syndrome

Prune Belly SyndromePrune Belly Syndrome

Cryptorchidism, loose abdominal wall, Cryptorchidism, loose abdominal wall, dilated urinary tractsdilated urinary tracts

Pneumonia if don’t fix abdominal wallPneumonia if don’t fix abdominal wall 5% female5% female

Beckwith-Weideman Beckwith-Weideman syndromesyndrome

Macroglossia, macrosomia (>90%ile Macroglossia, macrosomia (>90%ile ht & wt), midline abdominal wall ht & wt), midline abdominal wall defects, ear pits, hypoglycemiadefects, ear pits, hypoglycemia

Why important?Why important? Increased incidence of Wilm’s tumor, Increased incidence of Wilm’s tumor,

adrenal cortical carcinomaadrenal cortical carcinoma

Bartter syndromeBartter syndrome

Congenital childhood renal diseaseCongenital childhood renal disease

Metabolic acidosis, hypereninemic Metabolic acidosis, hypereninemic hyperaldosteronism, hypokalemiahyperaldosteronism, hypokalemia

Muscle weakness, polyuria, growth Muscle weakness, polyuria, growth retardation, constipation, kidney stonesretardation, constipation, kidney stones

Potassium & salt-wastingPotassium & salt-wasting

Drash syndromeDrash syndrome

AKA Denys-Drash SyndromeAKA Denys-Drash Syndrome

Ambiguous genitalia (male Ambiguous genitalia (male pseudohermaphrodite)pseudohermaphrodite)

Renal dysgenesis, renal failure by age 3, Renal dysgenesis, renal failure by age 3, nephrotic syndrome, HTNnephrotic syndrome, HTN

Why important?Why important? Increased incidence of Wilm’s tumorIncreased incidence of Wilm’s tumor

VATER syndromeVATER syndrome

Verterbral anomaliesVerterbral anomalies Anal atresiaAnal atresia Tracheo-Esophageal fistulaTracheo-Esophageal fistula Renal anomalyRenal anomaly

Why important?Why important? Increased incidence of Horseshoe KidneyIncreased incidence of Horseshoe Kidney

Shy Bladder syndromeShy Bladder syndrome

Inability to urinate w/ people aroundInability to urinate w/ people around ParuresisParuresis

Social phobia according to DSM-IVSocial phobia according to DSM-IV

www.shybladder.orgwww.shybladder.org

Turner syndromeTurner syndrome

XO - femaleXO - female

Why important?Why important? Increased incidence of Horseshoe KidneyIncreased incidence of Horseshoe Kidney Infertility Infertility

Edward syndromeEdward syndrome

Trisomy 18Trisomy 18

Why important?Why important? Increased incidence of Horseshoe KidneyIncreased incidence of Horseshoe Kidney

Klinefelter syndromeKlinefelter syndrome

1 in 600 male births1 in 600 male births XXYXXY

Small firm testes, gynecomastia, elevated Small firm testes, gynecomastia, elevated urine gonadotropinsurine gonadotropins

InfertilityInfertility Elevated FSH, sclerosis of tubules on testes biopsyElevated FSH, sclerosis of tubules on testes biopsy

May need testosteroneMay need testosterone

Mayer-Rokitansky-Kuster-Mayer-Rokitansky-Kuster-Hauser SyndromeHauser Syndrome

Congenital absence of vagina & Congenital absence of vagina & abnormal uterus abnormal uterus

Renal agenesis & skeletal abnormalities Renal agenesis & skeletal abnormalities commoncommon

Mullerian agenesisMullerian agenesis

Presents w/ amenorrhea in normal Presents w/ amenorrhea in normal pubertal femalepubertal female

Nelson’s syndromeNelson’s syndrome

Who gets it?Who gets it? Rapidly enlarging pituitary tumor after Rapidly enlarging pituitary tumor after

B/L adrenalectomyB/L adrenalectomy 10-20% of pts who get B/L adrenalectomy 10-20% of pts who get B/L adrenalectomy

for Cushing’s syndrome for Cushing’s syndrome Chromophobe adenomaChromophobe adenoma

Headache, hyperpigmentationHeadache, hyperpigmentation

Stauffer SyndromeStauffer Syndrome

Signs & symptoms of nonmetastatic Signs & symptoms of nonmetastatic liver dysfunction associated w/ RCCliver dysfunction associated w/ RCC Fever, fatigue, wt lossFever, fatigue, wt loss High alk phos, high bilirubin, High alk phos, high bilirubin,

hypoalbuminemia, prolonged PTT, hypoalbuminemia, prolonged PTT, hypergammaglobulinemiahypergammaglobulinemia

Goes away after nephrectomyGoes away after nephrectomy

Craig Hunter SyndromeCraig Hunter Syndrome

Behcet’s syndromeBehcet’s syndrome

Chronic immune vasculitisChronic immune vasculitis

Apthous ulcers, genital ulcers, uveitisApthous ulcers, genital ulcers, uveitis

Hematuria-Dysuria Hematuria-Dysuria syndromesyndrome

Most common complication of Most common complication of gastrocystoplastygastrocystoplasty Hematuria & dysuria w/o infectionsHematuria & dysuria w/o infections

Reiter’s SyndromeReiter’s Syndrome Reactive arthritisReactive arthritis

Polyarthritis, conjunctivitis, Polyarthritis, conjunctivitis, nongonococcal urthritis (cervicitis in nongonococcal urthritis (cervicitis in women)women)

Systemic inflammatory response triggered Systemic inflammatory response triggered by GU or GI infectionby GU or GI infection

NSAIDS, steroids for arthritisNSAIDS, steroids for arthritis

Balanitis circinataBalanitis circinata Annular rash on glansAnnular rash on glans

Hinman’s SyndromeHinman’s Syndrome

Nonneurogenic neurogenic bladderNonneurogenic neurogenic bladder

Dysfunctional voidingDysfunctional voiding Bladder/sphincter dysfunction w/ no Bladder/sphincter dysfunction w/ no

neurologic causeneurologic cause CICCIC

Fowler SyndromeFowler Syndrome

Urinary retention w/ no neurologic Urinary retention w/ no neurologic diseasedisease

Bladder capacity >1L w/ no urgeBladder capacity >1L w/ no urge

Female <30 yo, PCOSFemale <30 yo, PCOS

EMG of striated sphincter – EMG of striated sphincter – complex complex repetitive dischargesrepetitive discharges & & decelerating burstsdecelerating bursts

Treat w/ InterstimTreat w/ Interstim

Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome

Connective tissue diseaseConnective tissue disease skin fragility, skin hyperextensibility, skin fragility, skin hyperextensibility,

and joint mobility and joint mobility

Bladder diverticuliBladder diverticuli

Young’s SyndromeYoung’s Syndrome

Chronic sinusitis, bronchiectasis, Chronic sinusitis, bronchiectasis, obstructive azospermiaobstructive azospermia Abnormally viscous mucusAbnormally viscous mucus

Excess secretions – block epididymis Excess secretions – block epididymis Treat w/ vasoepididymostomyTreat w/ vasoepididymostomy

Lesch-Nyhan syndromeLesch-Nyhan syndrome

X-linked recessiveX-linked recessive Loss of enzyme hypoxanthine guanine Loss of enzyme hypoxanthine guanine

phosphoribosyl transferasephosphoribosyl transferase Self mutilationSelf mutilation

Hyperuricemia & uric acid stonesHyperuricemia & uric acid stones Treat w/ allopurinolTreat w/ allopurinol

Kallmann’s syndromeKallmann’s syndrome

Anosmia, small testes, Anosmia, small testes, cryptorchidism, color blindness, cryptorchidism, color blindness, hypogonadotropic hypogonadismhypogonadotropic hypogonadism

GnRH secretion failure by hypothalamus GnRH secretion failure by hypothalamus causing testicular failurecausing testicular failure

Birt-Hogg-Dube syndromeBirt-Hogg-Dube syndrome

ADAD

Xsome 17p11, encodes tumor Xsome 17p11, encodes tumor suppressor protein folliculinsuppressor protein folliculin

Fibrofolliculomas (hamartoma of hair Fibrofolliculomas (hamartoma of hair follicle), trichodiscomas, skin tags, follicle), trichodiscomas, skin tags, propensity for renal tumorspropensity for renal tumors

Renal tumors B/L, multiple, chromophobe, Renal tumors B/L, multiple, chromophobe, oncocytomaoncocytoma

Menkes syndromeMenkes syndrome

Congenital problem w/ copper Congenital problem w/ copper metabolismmetabolism

High incidence of High incidence of bladder diverticula, UTI, bladder diverticula, UTI, UPJ obstruction, VUR, cryptorchidismUPJ obstruction, VUR, cryptorchidism

Treat tics w/ CICTreat tics w/ CIC

THE ENDTHE END