cystic diseases of kidney

CYSTIC DISEASES OF KIDNEY

DR. ARPITA SAHA

KIDNEY CYST

• A FLUID-FILLED SAC

• LINED BY AN EPITHELIUM

• ARISING FROM A DILATATION IN ANY PART OF THE NEPHRON OR COLLECTING DUCT

1. MULTICYSTIC RENAL DYSPLASIA

2. POLYCYSTIC KIDNEY DISEASE

A. AUTOSOMAL-DOMINANT (ADULT) POLYCYSTIC DISEASE

B. AUTOSOMAL-RECESSIVE (CHILDHOOD) POLYCYSTIC DISEASE

3. MEDULLARY CYSTIC DISEASE

A. MEDULLARY SPONGE KIDNEY

B. NEPHRONOPHTHISIS

4. ACQUIRED CYSTIC DISEASE

A. DIALYSIS-ASSOCIATED

B. HYDATID CYST

C. TUBERCULOSIS

D. NEOPLASM ASSOCIATED

5. LOCALIZED (SIMPLE) RENAL CYSTS

6. RENAL CYSTS IN HEREDITARY MALFORMATION SYNDROMES (E.G., TUBEROUS SCLEROSIS, VHL)

7. GLOMERULOCYSTIC DISEASE

8. EXTRAPARENCHYMAL RENAL CYSTS

A. PYELOCALYCEAL CYSTS

B. HILAR LYMPHANGITIC CYSTS

ADPKD

• HEREDITARY

• AGE OF PRESENTATION- USUALLY 4TH TO 5TH DECADE

• COMMON• 1/400- 1000 LIVE BIRTH

• M/C MUTATION-PKD1 IN CHROMOSOME 16 (85% CASES, MORE SEVERE)• POLYCYSTIN 1

• PKD 2 IN CHROMOSOME 4 (LESS SEVERE)• POLYCYSTIN 2

ADPKD•GROSS:• USUALLY BILATERAL ENORMOUS

ENLARGEMENT

• SIZES; WEIGHTS

• EXTERNAL SURFACE: MASS OF CYSTS WITH NO INTERVENING PARENCHYMA

• CYSTS: CLEAR/SEROUS FLUID/TURBID RED TO BROWN/HEMORRHAGIC FLUID

• ENLARGEMENT PRESSURE EFFECTS ON CALYCES AND PELVIS . .+/-

MICROSCOPY• CYSTS: LINED BY

CUBOIDAL/FLATTENED EPITHELIUM

• INTERVENENING AREA:

ISCHEMIC ATROPHY

FUNCTIONING NEPHRONS

INTERSTITIAL SCARRING

TUBULAR ATROPHY

• PELVICALYCEAL SYSTEM: PRESSURE EFFECT

CLINICAL FEATURES

• ASYMPTOMATIC / RENAL INSUFFICIENCY > 30 YRS

• PAIN: HAEMORRHAGE/PROGRESSIVE DILATION OF CYSTS

• RENAL COLIC: EXCRETION OF BLOOD CLOTS CAUSES.

• ABDOMINAL PALPATION: HUGELY ENLARGED KIDNEYS

• HEMATURIA

• FEATURES OF PROGRESSIVE CHRONIC KIDNEY DISEASE:

• PROTEINURIA , POLYURIA, AND HYPERTENSION.

CLINICAL FEATURES…..

• PATIENTS WITH PKD2 MUTATIONS:

>OLDER AGE AT ONSET

>LATER DEVELOPMENT OF RENAL FAILURE.

• PROGRESSION IS ACCELERATED IN:

BLACKS (LARGELY CORRELATED WITH SICKLE-CELL TRAIT)

MALES

IN THE PRESENCE OF HYPERTENSION

DIAGNOSIS USUALLY ESTABLISHED BY USG

• REVEALS DIFFUSE HYPERECHOGENICITY, BILATERALLY ENLARGED KIDNEYS WITH CYSTS

• CRITERIA FOR ADPKD: <30 YEARS: AT LEAST 2 CYST IN ONE KIDNEY

• IF EITHER PARENT HAS ADPKD FINDING OF ENLARGED ECHOGENIC KIDNEYS IN FETUS CONFIRMS PRENATAL DIAGNOSIS

EXTRARENAL CONGENITAL ANOMALIES

• POLYCYSTIC LIVER DISEASE

• SPLEEN

• PANCREAS

• LUNGS

• INTRACRANIAL BERRY ANEURYSMS

• PINEAL GLAND

• SEMINAL VESICLE

• MITRAL VALVE PROLAPSE AND OTHER CARDIAC VALVULAR ANOMALIES

• COLONIC DIVERTICULA

• SKELETAL ABNORMALITY

CLINICAL OUTCOME

• LONG RUN ESRD

• CAUSE OF DEATH

• 40% CORONARY/HYPERTENSIVE HEART DISEASE

• 25% INFECTION

• 15% RUPTURED BERRY ANEURYSM

• REST OTHER CAUSES

ARPKD

• RARE 1: 40,000 LIVE BIRTH

• PKHD1 GENE IN CHROMOSOME 6

• FIBROCYSTIN

GROSS

• Enlarged

• Smooth external appearance.

• RETAIN RENIFORM SHAPE

• C/S- numerous small cysts in the cortex and medulla kidney spongelike

• Dilated elongated channels are present at RIGHT ANGLES TO THE CORTICAL SURFACE

• Complete REPLACEMENT OF the medulla and cortex

MICROSCOPY

• CYLINDRICAL DILATION OF ALL COLLECTING TUBULES.

• CYSTS - UNIFORM LINING BY CUBOIDAL CELLS

LIVER

• CYSTS

• ASSOCIATED WITH PORTAL FIBROSIS

• PROLIFERATION OF PORTAL BILE DUCTS.

CLINICAL FEATURE

• LARGE ABDOMINAL MASS AT BIRTH

• POTTER PHENOTYPE

• FACIES D/T OLIGOHYDROMNIOS

• JOINT DEFORMATION

• PULMONARY HYPOPLASIA

• SEVERE- NEWBORN DIE SHORTLY AFTER BIRTH

• OLDER CHILDREN (4-8 YRS) HEPATIC DISEASE

• APPROX 23% EXPERIENCE VARICEAL BLEEDING

• ESRD USUALLY AFTER 15 YRS OF AGE

MULTICYSTIC RENAL DYSPLASIA

• M.C.CAUSE OF PALPABLE ABDOMINAL LUMP IN NEONATE

• M.C. CAUSE OF CYSTIC DISEASE IN CHILDREN

• SPORADIC DISEASE

• DUE TO ABNORMAL METANEPHRIC DIFFERENTIATION

MRD

• A/W

• URETEROPELVIC ANOMALY

• CARDIOVASCULAR ABNORMALITY

• GROSS

• ENLARGED

• EXREMELY IRREGULAR

• MULTICYSTIC KIDNEY

MRD

• CYST LINED BY FLATTTENED EPITHELIAL LINIG

• SURROUNDED BY UNDIFFERENTIATED MESENCHYME, CARTILAGE, IMMATURE COLLECTING DUCT

• NORMAL NEPHRONS ARE THERE BUT MANY OF THEM HAVE IMMATURE CD

UROLITHIASIS

TYPES

• FOUR MAIN TYPES

• (1) CALCIUM STONES - CALCIUM OXALATE OR CALCIUM OXALATE MIXED WITH CALCIUM PHOSPHATE

• (2) TRIPLE STONES OR STRUVITE STONES- MAGNESIUM AMMONIUM PHOSPHATE

• (3) URIC ACID STONES

• (4) CYSTINE

CAUSES

• OBSCURED

• PREDISPOSING FACTORS• CONC OF SOLUTE

• CHANGES IN pH

• BACTERIAL INFECTIONS

• LACK OF INHIBITORS OF CRYSTAL FORMATION IN URINE

CALCIUM OXALATE STONE

• MC CAUSE HYPERCALCIURIA

1. ABSORPTIVE

2. RENAL

• ALKALINE URINE PREDISPOSE

STRUVITE STONE

• ALKALINE URINE

• POST UTI (P. vulgaris)

• AVITAMINOSIS A

URIC ACID STONE

• GOUT

• DISEASES INVOLVING RAPID CELL TURNOVER EG, LEUKEMIA

• ACIDIC URINE

CYSTINE STONE

• ACIDIC URINE

• A/W IMPAIRED RENAL CYSTINE TRANSPORT

MORPHOLOGY

• USUALY UNILATERAL

• RENAL PELVIS & CALYCES > BLADDER >…….

• SMALL/ LARGE

• SMOOTH/ JAGGED

• STAGHORN CALCULI

CLINICALLY

• ASYMPTOMATIC/ SIGNIFICANT RENAL DAMAGE

• COLIC

• OBSTRUCT URINE FLOW ULCERATION, BLEEDING (GROSS HEMATURIA) BACTERIAL INFECTION