nephrology polycystic kidney diseases kisney nephro PKD autosomal dominant polycystic kidney disease autosomal recessive polycystic kidney disease

1. Polycystic Kidney
Disease
Done by: Mays Khaled Najjar
Supervised by: Dr. Sameer Zawahreh
Date: 3/22/2023
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2. OUTLINES
Definition Symptoms
Autosomal
Dominant
Polycystic
Kidney Disease
Autosomal
Recessive
Polycystic
Kidney Disease
Reference
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Cystic Kidney Diseases:
Renal Cysts
Inherited
Enlarged Kidneys with cysts in
medulla and cortex.
PKD
Shrunk kidneys with
cysts in the medulla
Medullary Cystic
Kidney.
Non-Inherited
Multi-Cystic Dysplastic
Kidney.

4. Definition
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.
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5. Symptoms
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Hematuria
01
Flank Pain
02
Hypertension
03
Palpable
Kidneys on
examination
04

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PKD Types
Autosomal Dominant
Polycystic Kidney
Disease
Autosomal Recessive
Polycystic Kidney
Disease

7. Autosomal Dominant PKD (ADPKD)
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PKD 1 (85 % of cases, on chromosome 16) or PKD2 (15% of cases, on chromosome 4) genes
mutations. Its dominant on personal level but recessive on cellular level.
Could form anywhere of the nephron, but less than 5% of nephrons are affected.
Microscopic cysts at birth and progressively enlarge over the 3rd or 4th decade. Enlarge cysts compress renal parenchyma
and lead to fibrosis.
Called Adult PKD, and it’s the most common genetic cause of renal failure.

8. Associated features and
complications
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Nephrolithiasis and UTI
Infection or hemorrhage into the cyst.
Intracerebral berry syndrome
Other organ cysts (Liver, pancreas, colon,
spleen, seminal vesicles and aortic root).
Abdominal and inguinal hernias.

9. Diagnosis
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Ultrasound is the confirmatory
CT scan and MRI are alternatives

10. Treatment
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No curative treatment.
Drain cysts if symptomatic.
Treat infections with antibiotics.
Treat HTN with ACEi or ARBs.
For Kidney failure, dialysis or kidney transplant.

11. Autosomal Recessive PKD (ARPKD)
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PKHD1 gene mutation, which codes for fibrocystin proteins in kidneys and bile ducts.
Occurs in fetal period and causes oligohydramnios and Potter sequence. Pulmonary hypoplasia is the most
common cause of death in neonatal life in ARPKD patient.
Associated with congenital liver fibrosis that could lead to portal HTN and its complications.
Associated with dilated bile ducts ( lead to cholestasis if in hepatic bile ducts, and ascending
cholangitis in CBD)

12. Potter Sequence
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13. Diagnosis
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Prenatal ultrasound shows bilateral
enlarged kidneys with cysts,
hepatomegaly, dilated bile ducts and
oligohydramnios.
Molecular genetics if the diagnosis is
not clear.

14. Treatment
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No curative treatment.
Manage respiratory issues in newborns.
For ESRD, dialysis or kidney transplant.

15. Reference
• Agabegi, S. S., Agabegi, E. D.,
Duncan, M. D., & Chuang, K.
(2019). Step-up to medicine. Wolters
Kluwer Health.
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16. Thank you
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