Clinical integration 4: Pathology of Urinary system

Adult patients with the bilateral renal cystic disease are

found to have defects in renal tubular function. Their kidneys

are markedly increased in size. They have ciliopathy, with

reduced mechanosensing of tubular fluid flow. Mutations are

found in a gene encoding for a protein component of these cilia.

What is this protein most likely to be?

• Elongin

• Fibrocystin

• Nephrocystin

• Polycystin

• Tuberin

A 61-year-old woman has experienced increasing malaise

and bouts of abdominal pain for the past 5 years. On physical

examination, she has a blood pressure of 150/95 mm Hg.

On auscultation, a midsystolic click is heard over the mitral

area. Bilateral abdominal masses are palpable. Abdominal

ultrasound shows enlarged kidneys with the representative

gross appearance shown in the figure.

Which of the following extrarenal conditions is she most likely to have?

• Berry aneurysm

• Coagulopathy

• Hepatic cirrhosis

• Ischemic cardiomyopathy

• Pulmonary fibrosis

A 20-year-old primigravid woman is in the third trimester

and has felt minimal fetal movement. An ultrasound scan

shows bilaterally enlarged echogenic kidneys and a markedly

decreased amniotic fluid index. She gives birth to a stillborn

male fetus at 33 weeks of gestation. At autopsy, there are deformations

resulting from marked oligohydramnios, including

flattening of the facies, varus deformities of the feet, and

marked pulmonary hypoplasia. Microscopic examination of

the liver shows multiple epithelium-lined cysts and proliferation

of bile ducts.

Which of the following is the most likely

renal disease in this fetus?

• Autosomal dominant polycystic kidney disease

• Autosomal recessive polycystic kidney disease

• Medullary sponge kidney

• Multicystic renal dysplasia

• Urethral atresia

A 42-year-old man has had right flank pain for the past 2 days.

On physical examination, his temperature is 37.1° C, pulse is 70/min, respirations are 14/min,

and blood pressure is 130/85 mm Hg.

Laboratory studies show a serum creatinine level of 1.1 mg/dL.

Urinalysis shows no blood, protein, or glucose, and microscopic examination of the urine shows no WBCs or RBCs.

Abdominal CT scan shows a 7-cm eccentric lesion of the upper pole of the right kidney.

The lesion is well circumscribed and cystic with a thin wall and focal hemorrhage.

What is the most likely diagnosis?

• Hydronephrosis

• Simple renal cyst

• Renal cell carcinoma with cystic degeneration

• Acquired cystic disease (dialysis-associated)

A 55-year-old man has had back pain and has passed dark-colored urine for the past month.

On physical examination, there is tenderness over the right costovertebral angle.

Urinalysis shows a pH of 6; specific gravity, 1.015; 2+ hematuria; and no protein, glucose, or ketones.

Microscopic examination of the urine shows numerous RBCs, few WBCs, and no casts or crystals.

The figure shows the representative gross appearance of the renal lesion.

Which of the following substances is most likely to be increased in the blood of this man?

• Cortisol

• Globulin

• Erythropoietin

• Renin

• Vasopressin

Members of a family with a history of renal cancer undergo ultrasound screening. Two adults are found to have multifocal and bilateral renal mass lesions.

Biopsies are obtained, and microscopic examination shows a papillary pattern.

A mutation involving which of the following genes is most likely to be found in this family?

• MET

• PKD1

• RAS

• TSC1

• WT1

A 4-year-old girl has complained of abdominal pain for the past month.

On physical examination, she is febrile, and palpation of the abdomen shows a tender mass on the right side. Bowel sounds are present.

Laboratory studies show hematuria without proteinuria.

An abdominal CT scan shows a 12-cm, circumscribed, solid mass in the right kidney. A right-sided nephrectomy is performed; the gross appearance of the mass is shown in the figure.

What is the most likely diagnosis?

• Angiomyolipoma

• Renal cell carcinoma

• Transitional cell carcinoma (urothelial carcinoma)

• Wilms tumor

A 65-year-old man recently retired after many years in a job that involved exposure to aniline dyes, including

β-naphthylamine. One month ago, he had an episode of hematuria that was not accompanied by abdominal pain.

On physical examination, there are no abnormal findings. Urinalysis shows 4+ hematuria, and no ketones, glucose, or protein. Microscopic examination of the urine shows RBCs that are too numerous to count, 5 to 10 WBCs per high-power field, and no crystals or casts. The result of the urine culture is negative. Cystoscopy is performed, and a biopsy of a lesion reveals the microscopic appearance in the figure together with cystoscopic findings.

Which of the following neoplasms is he most likely to have?

(Credit images: Mayo Clinic)

• Adenocarcinoma

• Renal cell carcinoma

• Squamous cell carcinoma

• Urothelial carcinoma

A 58-year-old man from Shanghai has noted passing darker urine within the past 3 weeks. On physical examination, there are no abnormalities.

Urinalysis shows blood is present.

Cystoscopy is performed and there is a 0.5 × 1.7 cm reddish area on the dome of the bladder.

Biopsies are obtained and have the microscopic appearance shown in the figure.

What is the most likely risk factor for his disease?

• Inherited gene mutation

• Obesity

• Schistosomiasis

• Smoking

A 78-year-old man has had increasing difficulties with

urination for the past 6 years. He has difficulty starting and

stopping the urine stream. On physical examination, his

temperature is 37° C and his blood pressure is 130/85 mm Hg.

The figure shows the representative gross appearance of the

bladder. Which of the following laboratory findings is most

likely to be reported in this patient?

• Positive antinuclear antibody test (ANA)

• Hemoglobin concentration of 22.5 g/dL

• Prostate-specific antigen level of 5 ng/mL

• Positive skin test for Mycobacterium tuberculosis