polycystic kidney.pptx

Kidny

1. Polycystic kidney disease PKD Khadija nofal . Supervised by Dr.Samir Brejiah.

2. Renal cyst Disease Non-inherited inherited Multicystic dysplastic kidney Shrunken kidney with cyst in medulla Enlarged kidney with cyst in medulla+cortex Medullary cystic kidney(MCD) Polycystic kidney disease (PKD) Autosomal dominant Autosomal recessive

3. Polycystic kidney disease PKD polycystic kidney disease (PKD) is an inherited disorder characterized by the development of multiple cysts develop primarily within kidneys, causing kidneys to enlarge and lose function over time. Prev. 1 in 400-1000. 2\3 need renal replacement 60 th .. ESRF

4. Pathophysiology

5. Classification of PKD 1. Autosomal dominant PKD(ADPKD) 2. Autosomal recessive PKD (ARPKD)

6. Autosomal dominant PKD(ADPKD ) Called adult cystic kidney diseas e because symptoms manifest in adulthood, is passed from parent to child by an autosomal dominant type of inheritance. Most common genetic cause of chronic kidney disease Renal failure occurs from cysts replacing renal parenchyma over time. As recurrent episodes of pyelonephritis and nephrolithiasis

7. genes of PKD Both are component of primary cilium Polycystine 2 Polycystine 1 PKD2 mutation on chromosome 4(15%) Less sever Later onset PKD1 mutation on chromosome 16(85%) More sever Earlier onset

8. Clinical features of autosomal dominant 1. Hematuria usually visible and thought to be due to rupture of cysts into the collecting system 2. Abdominal pain(FLANK) sources include pyelonephritis, stones, and hemorrhaging into cysts 3.HTN (in >50% of the cases) Due to compression by cyst on neighboring tubule decrease blood flow = decrease O2= activation of RAAS system 4. Palpable kidneys on abdominal examination

9. Complications/associated findings a . Intracerebral berry aneurysm ( in 5% to 20% of cases)— most do not rupture.. if ruptured = subarachnoid hemorrhage ( circle of willis ) b. Infection of renal cysts; bleeding into cysts c. Renal failure ( late in the disease) d. Kidney stones . f . Cysts in other organs (liver , spleen, pancreas, brain, seminal vesicle) g. Diverticula (colon) h. Hernias (abdominal/inguinal) i . Heart valve abnormalities (especially mitral valve prolapse ) j . Aortic root dilatation = heart failure

10. diagnosis Ultrasound CT ( Multiple cysts appear on the kidney ) MRI

11. Autosomal recessive PKD (ARPKD) Called infantile cystic kidney disease because symptoms manifest in infancy. Inherited mutation of both copy of gene , This means that both parents must carry the abnormal gene, and both must pass the gene to the child in order for the Child to develop the disease. The less common form of PKD.

12. gene mutation PKHD1 mutation On chromosome 6 Fibrocystin Co localizes with polycystine Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function

13. features of autosomal recessive Potter syndrome is a developmental abnormality characterized by p ulmonary hypoplasia oligohydramnios t wisted face t wisted sKin e xtremity defects(club feet) R enal failure (in utero) with severe ARPKD Possible renal failure before birth →decrease urine production → low amniotic fluid (oligohydramnios) Lead to:

14. Liver involvement is always present, and may be the dominant clinical feature , especially in older individuals . Hepatic complications include: - congenital hepatic fibrosis -portal HTN can lead compromised blood flow to porto - renal system Esophageal varices Upper GI bleeding Splenomegaly Hemorrhoids cholangitis.

15. Pulmonary insufficiency secondary to pulmonary hypoplasia and enlarged kidneys limiting diaphragmatic movement may be severe. Pulmonary complications are the leading cause of morbidity and mortality in the neonatal period. Kidneys are increased in size which may cause severe abdominal distension . HTN Hematuria Flank pain

16. Diagnosis of ARPKD detected prenatally due to the widespread use of ultrasound during pregnancy . Oligohydramnios during pregnancy usually indicates severe disease . Ultrasound will show characteristic renal cysts . Ultrasound will also show hepatomegaly and dilated bile ducts Molecular genetic testing may confirm the disease in cases where the diagnosis is unclear.

17. Treatmen t hypertension angiotensin converting enzyme inhibitors angiotensin receptor blockers renal failure Dialysis Transplant portal hypertension portocaval shunt~bypasses liver transplant ,