Polycystic liver disease

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]

Contents

• 
  1 Pathophysiology
  


• 
  2 Diagnosis
  


• 
  3 Treatment
  


• 
  4 References
  


• 
  5 Further reading
  


• 
  6 External links
  

Pathophysiology

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

Diagnosis

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]

Treatment

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

1. 
   ^ Kelly, Deirdre A. (2009). Diseases of the Liver and Biliary System in Children. John Wiley & Sons. p. 239. ISBN 9781444300543. Retrieved 7 March 2018..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output .citation q{quotes:"""""""'""'"}.mw-parser-output .citation .cs1-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/9px-Lock-green.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .citation .cs1-lock-limited a,.mw-parser-output .citation .cs1-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Lock-gray-alt-2.svg/9px-Lock-gray-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .citation .cs1-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Lock-red-alt-2.svg/9px-Lock-red-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/4/4c/Wikisource-logo.svg/12px-Wikisource-logo.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{font-size:100%}.mw-parser-output .cs1-maint{display:none;color:#33aa33;margin-left:0.3em}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}
   


2. 
   ^ ^abcdef Poston, Graeme J.; D’Angelica, Michael; Adam, René (2010). Surgical Management of Hepatobiliary and Pancreatic Disorders, Second Edition. CRC Press. p. 303. ISBN 9781841847603. Retrieved 7 March 2018.
   


3. 
   ^ Online Mendelian Inheritance in Man (OMIM) 174050
   

Further reading

• 
  Everson, Gregory T. (2008). "Polycystic Liver Disease". Gastroenterology & Hepatology. 4 (3): 179–181. ISSN 1554-7914. PMC 3088294. PMID 21904493.
  

External links

Classification	D ICD-10: Q44.6 OMIM: 174050 DiseasesDB: 33340

• https://web.archive.org/web/20060925144901/http://www.pkdcure.org/site/PageServer?pagename=pkdabt_patientsartic6

v t e Congenital malformations and deformations of digestive system (Q35–Q45, 749–751)
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 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 mental retardation 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 NOTCH3 CADASIL PRKAR1A Carney complex PRKAG2 Wolff–Parkinson–White syndrome PRKCSH PRKCSH Polycystic liver disease XIAP XIAP2
See also intracellular signaling peptides and proteins

This page is only for reference, If you need detailed information, please check here