urology syndrome
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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. - PowerPoint PPT PresentationTRANSCRIPT
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