Download Resident Talk Syndromes

Urology Syndrome
Brent Zamzow, DO
Eagle-Barrett Syndrome
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Prune Belly Syndrome
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Cryptorchidism, loose abdominal wall, dilated
urinary tracts
Pneumonia if don’t fix abdominal wall
 5% female
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Beckwith-Weideman syndrome
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Macroglossia, macrosomia (>90%ile ht &
wt), midline abdominal wall defects, ear
pits, hypoglycemia
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Why important?
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Increased incidence of Wilm’s tumor, adrenal
cortical carcinoma
Bartter syndrome
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Congenital childhood renal disease
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Metabolic acidosis, hypereninemic
hyperaldosteronism, hypokalemia
Muscle weakness, polyuria, growth retardation,
constipation, kidney stones
 Potassium & salt-wasting
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Drash syndrome
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AKA Denys-Drash Syndrome
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Ambiguous genitalia (male
pseudohermaphrodite)
Renal dysgenesis, renal failure by age 3,
nephrotic syndrome, HTN
Why important?

Increased incidence of Wilm’s tumor
VATER syndrome

Verterbral anomalies

Anal atresia
Tracheo-Esophageal fistula
Renal anomaly

Why important?
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Increased incidence of Horseshoe Kidney
Shy Bladder syndrome
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Inability to urinate w/ people around
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Paruresis

Social phobia according to DSM-IV

www.shybladder.org
Turner syndrome
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XO - female

Why important?
Increased incidence of Horseshoe Kidney
 Infertility

Edward syndrome
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Trisomy 18

Why important?

Increased incidence of Horseshoe Kidney
Klinefelter syndrome

1 in 600 male births

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XXY
Small firm testes, gynecomastia, elevated urine
gonadotropins
Infertility

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Elevated FSH, sclerosis of tubules on testes biopsy
May need testosterone
Mayer-Rokitansky-Kuster-Hauser
Syndrome
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Congenital absence of vagina & abnormal
uterus
Renal agenesis & skeletal abnormalities common
 Mullerian agenesis


Presents w/ amenorrhea in normal pubertal
female
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

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Chromophobe adenoma
Headache, hyperpigmentation
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

Craig Hunter Syndrome
Behcet’s syndrome

Chronic immune vasculitis

Apthous ulcers, genital ulcers, uveitis
Hematuria-Dysuria syndrome

Most common complication of
gastrocystoplasty

Hematuria & dysuria w/o infections
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
Hinman’s Syndrome

Nonneurogenic neurogenic bladder

Dysfunctional voiding
Bladder/sphincter dysfunction w/ no neurologic
cause
 CIC
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Fowler Syndrome
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Urinary retention w/ no neurologic disease

Bladder capacity >1L w/ no urge
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Female <30 yo, PCOS
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EMG of striated sphincter – complex repetitive
discharges & decelerating bursts
Treat w/ Interstim
Ehlers-Danlos Syndrome
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Connective tissue disease

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skin fragility, skin hyperextensibility, and joint
mobility
Bladder diverticuli
Young’s Syndrome

Chronic sinusitis, bronchiectasis,
obstructive azospermia

Abnormally viscous mucus

Excess secretions – block epididymis

Treat w/ vasoepididymostomy
Lesch-Nyhan syndrome
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X-linked recessive
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Loss of enzyme hypoxanthine guanine
phosphoribosyl transferase

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Self mutilation
Hyperuricemia & uric acid stones

Treat w/ allopurinol
Kallmann’s syndrome

Anosmia, small testes, cryptorchidism,
color blindness, hypogonadotropic
hypogonadism

GnRH secretion failure by hypothalamus
causing testicular failure
Birt-Hogg-Dube syndrome
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AD

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Xsome 17p11, encodes tumor suppressor
protein folliculin
Fibrofolliculomas (hamartoma of hair follicle),
trichodiscomas, skin tags, propensity for renal
tumors
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Renal tumors B/L, multiple, chromophobe,
oncocytoma
Menkes syndrome
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Congenital problem w/ copper metabolism
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High incidence of bladder diverticula, UTI, UPJ
obstruction, VUR, cryptorchidism
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Treat tics w/ CIC
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THE END