Polycystic liver disease

Medical condition

Polycystic liver disease

Micrograph showing a von Meyenburg complex, a bile duct hamartoma associated with polycystic liver disease. Trichrome stain.
Specialty| Medical genetics

Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue.[1] PLD is commonly seen in association with autosomal-dominant polycystic kidney disease, with a prevalence of 1 in 400 to 1000, and accounts for 8–10% of all cases of end-stage renal disease.[2] The much rarer autosomal-dominant polycystic liver disease will progress without any kidney involvement.[2]

## Presentation

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## Pathophysiology

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Associations with PRKCSH and SEC63 have been described.[3] Polycystic liver disease comes in two forms: autosomal dominant polycystic kidney disease (with kidney cysts) and autosomal dominant polycystic liver disease (liver cysts only).[citation needed]

## Diagnosis

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Most patients with PLD are asymptomatic with simple cysts found following routine investigations. After confirming the presence of cysts in the liver, laboratory tests may be ordered to check for liver function including bilirubin, alkaline phosphatase, alanine aminotransferase, and prothrombin time.[2]

Patients with PLD often have an enlarged liver which will compress adjacent organs, leading to nausea, respiratory issues, and limited physical ability. Classification of the progression of the disease takes into consideration the amount of remaining liver parenchyma compared to the amount and size of cysts.[2]

Polycystic liver disease can exist either as isolated polycystic liver disease (PCLD), part of autosomal dominant polycystic kidney disease (ADPKD), or autosomal recessive polycystic kidney disease (ARPKD).[4]

## Treatment

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Many patients are asymptomatic and thus are not candidates for surgery. For patients with pain or complications from the cysts, the goal of treatment is to reduce the size of cysts while protecting the functioning liver parenchyma.[2]

Cysts may be removed surgically or by using aspiration sclerotherapy.[2]

## References

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1. ^ Kelly DA (2009). Diseases of the Liver and Biliary System in Children. John Wiley & Sons. p. 239\. ISBN 978-1-4443-0054-3. Retrieved 7 March 2018.
2. ^ a b c d e f Poston GJ, D'Angelica M, Adam R (2010). Surgical Management of Hepatobiliary and Pancreatic Disorders, Second Edition. CRC Press. p. 303\. ISBN 978-1-84184-760-3. Retrieved 7 March 2018.
3. ^ Online Mendelian Inheritance in Man (OMIM): 174050
4. ^ Zhang ZY, Wang ZM, Huang Y (March 2020). "Polycystic liver disease: Classification, diagnosis, treatment process, and clinical management". World Journal of Hepatology. 12 (3): 72–83. doi:10.4254/wjh.v12.i3.72. PMC 7097502. PMID 32231761.

## Further reading

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* Everson GT (March 2008). "Polycystic liver disease". Gastroenterology & Hepatology. 4 (3): 179–81. PMC 3088294. PMID 21904493.

## External links

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Classification|

* ICD-10: Q44.6
* OMIM: 174050
* MeSH: C536330
* DiseasesDB: 33340

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* v
* t
* e

Congenital malformations and deformations of digestive system

Upper GI tract|

| Tongue, mouth and pharynx|

* Cleft lip and palate
* Van der Woude syndrome
* tongue
* Ankyloglossia
* Macroglossia
* Hypoglossia

|

Esophagus|

* EA/TEF
* Esophageal atresia: types A, B, C, and D
* Tracheoesophageal fistula: types B, C, D and E
* Esophageal inlet patch

* esophageal rings
* Esophageal web (upper)
* Schatzki ring (lower)

Stomach|

* Pyloric stenosis
* Hiatus hernia

Lower GI tract|

| Intestines|

* Intestinal atresia
* Duodenal atresia
* Meckel's diverticulum
* Hirschsprung's disease
* Intestinal malrotation
* Dolichocolon
* Enteric duplication cyst

|

Rectum/anal canal|

* Imperforate anus
* Rectovestibular fistula
* Persistent cloaca
* Rectal atresia

Accessory|

| Pancreas|

* Annular pancreas
* Accessory pancreas
* Johanson–Blizzard syndrome
* Pancreas divisum

|

Bile duct|

* Choledochal cysts
* Caroli disease
* Biliary atresia

Liver|

* Alagille syndrome
* Polycystic liver disease

* v
* t
* e

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators|

| GTPase-activating protein|

* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis

|

Guanine nucleotide
exchange factor|

* Marinesco–Sjögren syndrome
* Aarskog–Scott syndrome
* Juvenile primary lateral sclerosis
* X-linked intellectual disability 1

G protein|

| Heterotrimeic|

* cAMP/GNAS1: Pseudopseudohypoparathyroidism
* Progressive osseous heteroplasia
* Pseudohypoparathyroidism
* Albright's hereditary osteodystrophy
* McCune–Albright syndrome
* CGL 2

|

Monomeric|

* RAS: HRAS
* Costello syndrome
* KRAS
* Noonan syndrome 3
* KRAS Cardiofaciocutaneous syndrome

* RAB: RAB7
* Charcot–Marie–Tooth disease
* RAB23
* Carpenter syndrome
* RAB27
* Griscelli syndrome type 2

* RHO: RAC2
* Neutrophil immunodeficiency syndrome

* ARF: SAR1B
* Chylomicron retention disease
* ARL13B
* Joubert syndrome 8
* ARL6
* Bardet–Biedl syndrome 3

MAP kinase|

* Cardiofaciocutaneous syndrome

Other kinase/phosphatase|

| Tyrosine kinase|

* BTK
* X-linked agammaglobulinemia
* ZAP70
* ZAP70 deficiency

|

Serine/threonine
kinase|

* RPS6KA3
* Coffin-Lowry syndrome
* CHEK2
* Li–Fraumeni syndrome 2
* IKBKG
* Incontinentia pigmenti
* STK11
* Peutz–Jeghers syndrome
* DMPK
* Myotonic dystrophy 1
* ATR
* Seckel syndrome 1
* GRK1
* Oguchi disease 2
* WNK4/WNK1
* Pseudohypoaldosteronism 2

Tyrosine
phosphatase|

* PTEN
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
* Cowden syndrome
* Proteus-like syndrome
* MTM1
* X-linked myotubular myopathy
* PTPN11
* Noonan syndrome 1
* LEOPARD syndrome
* Metachondromatosis

Signal transducing adaptor proteins|

* EDARADD
* EDARADD Hypohidrotic ectodermal dysplasia
* SH3BP2
* Cherubism
* LDB3
* Zaspopathy

Other|

* NF2
* Neurofibromatosis type II
* Notch 3
* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2

See also intracellular signaling peptides and proteins
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*[t]: Discuss this template
*[e]: Edit this template