polycystic kidney by santosh

8/7/2019 polycystic kidney by santosh

1/32

DR.M.SANTOSH1ST YR PG

RADIODIAGNOSIS


2/32

A 60 Yr old male patient reported with

c/o increased frequency of micturition

since 1 month.


3/32


4/32


5/32


6/32


7/32


8/32


9/32

AUTOSOMAL DOMINANT POLYCYSTIC

KIDNEY DISEASE (ADPKD)


10/32

Cystic Diseases of the Kidney

1)von Hippel-Lindau Disease

2)Acquired renal cystic disease3)Autosomal recessive polycystic kidney

disease

4)Medullary cystic disease

5)Renal dysplasia6)Simple renal cysts


11/32

is a cystic genetic disorder of the kidneys.Thereare two types of PKD:

Autosomal Dominant Polycystic Kidney

Disease(ADPKD) and the Autosomal Recessive Polycystic Kidney

Disease(ARPKD).

The cysts are numerous and are fluid-filled

resulting in massive enlargement of the kidneys. The disease can also damage the liver, pancreas,

and in some rare cases, the heart and brain.


12/32

ADPKD:

One of the most common genetic life-threatening

disease (1 in every 400 to 1000 people)

Often without symptoms (Only 1/2 will be diagnosed)

ARPKD

Rare (1 in 10,000 to 20,000 people)

Childhood polycystic kidney disease

Typically diagnosed in infancy,; less severe forms may

be diagnosed later in childhood or adolescence.


13/32


14/32


15/32

10% of all transplant/dialysis patients

ADPKD-1 gene (polycystin) mutation

85%

Bilaterally enlarged kidneys (>3kg)

Symptoms appear in adult life

Kidney failure 5-10 years thereafter


16/32

PKD1: Abnormality on chromosome 16:

(85% of families with ADPKD)

PKD2: Abnormality on chromosome 4:

(15% of families with ADPKD)

Cysts and kidney failure occur at an earlier

age in PKD1 disease

ESRD: 57 vs. 69 years of age


17/32

In approximately 25-40% of cases, ADPKD

occurs in people without a family history of

the disease.

New mutation

More frequently, particularly in families

without PKD1, it is a disease that

progresses slowly and never causessymptoms


18/32


19/32


20/32

Frequency increases with age: 4% of young adultsvs. 10% in older patients

Family history of aneurysm or SAH: the highest riskof forming an aneurysm.

xEarly diagnosis is recommended in peoplewho are at high-risk.x

Screening (CT scan or MRA)


21/32

Only for high-risk patientsx Positive family history of a brain hemorrhagex Warning symptomsx Occupation (pilot), in whom loss of consciousness would

place patient or others at extreme risk

Screening of low-risk patients is not recommendedx Aneurysms are rare in this groupx Most aneurysms found have a low risk of rupturex There is a high risk of severe neurologic complications

associated with corrective surgeryx Most low-risk patients would not derive any benefit from

finding an aneurysm, since surgery for a small aneurysmwould not be recommended


22/32

Management of aneurysms: > 7 mm: high risk of rupture (up to 2% /

year)xSurgeryxPlacing coil within aneurysm reduces risk

of rupture

Smaller aneurysms that do not causesymptoms are much less likely to ruptureand are not corrected, except in peoplewith history of bleeding aneurysm


23/32

Common: 30 40% of people younger than 30; > 80% ofpeople over 60

More common in people with advanced kidney disease Incidence similar in men and women, but very large cystsoccur almost exclusively in women

More common in women who have had several pregnancies Most people have no symptoms and have normal or near-

normal liver function

Some develop pain: may require drainage if it ispersistent and severe

Cyst infection (which requires antibiotic therapy and,in some cases, drainage)


24/32

Heart valve disease: (25 30%) Mostly without symptoms May progress over time (may require valve

replacement)

Colonic diverticula (outpocketing that form in wall ofcolon) Diverticulosis: diverticula are present

Diverticulitis: inflammation of the diverticula People with ADPKD have an increased likelihood ofcomplications from diverticula, especially aftertransplant

Symptoms: Abdominal pain, diarrhea, blood in the stool


25/32


26/32

Usually easy to diagnose in people with: Flank or abdominal pain

Family history of ADPKD

Imaging study (Ultrasound, MRI, CT scan)x Cysts may be seen in the liver, pancreas, spleen


27/32

Criteria are very sensitive in detecting PKD1

< 30 years: at least 2 cysts (on one or both kidneys)

30 59: at least 2 cysts in each kidney > 60: 4 or more cysts in each kidney

A negative study does not mean that a person doesnot have PKD1 unless the age older than 30 years


28/32

A group of cysts with some connectivetissue, but no identifiable renal tissue

Most unilateral (left kidney)

Incidence 1:3000, boys>girls

Most common cause of abdominal mass in

newborn period Palpable flank mass in otherwise healthy infant

Reported in a variety of syndromes Beckwith-Wiedemann, Trisomy 18, VACTERL


29/32

Role of nephrectomy controversial Recommended to treat or prevent pain, UTI,

hypertension, or renal malignancy

Lifetime follow up despite involution ornephrectomy secondary to complications Hypertension, UTI, proteinuria, renal, malignancy


30/32


31/32


32/32

THANK

YOU

polycystic kidney by santosh

Documents