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Autosomal recessive polycystic kidney disease(PKD4)

MedGen UID:
39076
Concept ID:
C0085548
Congenital Abnormality; Disease or Syndrome
Synonyms: AR polycystic kidney disease; PKD3; PKD4; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; POLYCYSTIC KIDNEY DISEASE 4; POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE; Polycystic kidney disease, infantile type; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Autosomal recessive polycystic kidney disease (28770003); Infantile polycystic kidney disease (28770003); ARPKD - Autosomal recessive polycystic kidney disease (28770003); IPKD - Infantile polycystic kidney disease (28770003); Polycystic kidney disease, infantile type (28770003); Autosomal recessive infantile polycystic kidney disease (28770003)
 
Gene (location): PKHD1 (6p12.3-12.2)
OMIM®: 263200
Orphanet: ORPHA731

Disease characteristics

Excerpted from the GeneReview: Polycystic Kidney Disease, Autosomal Recessive
Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and is a cause of significant renal and liver-related morbidity and mortality in children. The majority of individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys. Renal disease is characterized by nephromegaly, hypertension, and varying degrees of renal dysfunction. More than 50% of affected individuals with ARPKD progress to end-stage renal disease (ESRD) within the first decade of life; ESRD may require kidney transplantation. Pulmonary hypoplasia resulting from oligohydramnios occurs in a number of affected infants. Approximately 30% of these infants die in the neonatal period or within the first year of life from respiratory insufficiency or superimposed pulmonary infections. With neonatal respiratory support and renal replacement therapies, the long-term survival of these infants has improved to greater than 80%. As advances in renal replacement therapy and kidney transplantation improve long-term survival, it is likely that clinical hepatobiliary disease will become a major feature of the natural history of ARPKD. In addition, a subset of individuals with this disorder are identified with hepatosplenomegaly; the renal disease is often mild and may be discovered incidentally during imaging studies of the abdomen. Approximately 50% of infants will have clinical evidence of liver involvement at diagnosis although histologic hepatic fibrosis is invariably present at birth. This can lead to progressive portal hypertension with resulting esophageal or gastric varices, enlarged hemorrhoids, splenomegaly, hypersplenism, protein-losing enteropathy, and gastrointestinal bleeding. Other hepatic findings include nonobstructed dilatation of the intrahepatic bile ducts (Caroli syndrome) and dilatation of the common bile duct, which may lead to recurrent or persistent bacterial ascending cholangitis due to dilated bile ducts and stagnant bile flow. An increasing number of affected individuals surviving the neonatal period will eventually require portosystemic shunting or liver transplantation for complications of portal hypertension or cholangitis. The classic neonatal presentation of ARPKD notwithstanding, there is significant variability in age and presenting clinical symptoms related to the relative degree of renal and biliary abnormalities. [from GeneReviews]
Authors:
William E Sweeney  |  Ellis D Avner   view full author information

Additional descriptions

From OMIM
PKD4 is an autosomal recessive polycystic kidney disease (ARPKD) characterized by enlarged, echogenic kidneys with fusiform dilatation of the collecting ducts. Most patients progress to end-stage renal disease (ESRD), but at varying ages. Patients also have liver disease consisting of dilated biliary ducts, congenital hepatic fibrosis (CHF), and portal hypertension (Caroli disease). The most typical disease expression occurs in neonates and includes a history of oligohydramnios, massively enlarged kidneys, and the 'Potter' sequence with pulmonary hypoplasia that leads to respiratory insufficiency and perinatal death in approximately 30% of affected newborns (summary by Hartung and Guay-Woodford, 2014). For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (173900).  http://www.omim.org/entry/263200
From GHR
Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.  https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease

Clinical features

Renal cyst
MedGen UID:
7215
Concept ID:
C0022679
Disease or Syndrome
A fluid filled sac in the kidney.
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Absence of renal corticomedullary differentiation
MedGen UID:
342352
Concept ID:
C1849765
Finding
A lack of differentiation between renal cortex and medulla on diagnostic imaging.
Tubulointerstitial fibrosis
MedGen UID:
370652
Concept ID:
C1969372
Pathologic Function
A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney.
Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.
Esophageal varix
MedGen UID:
5027
Concept ID:
C0014867
Finding
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Enlargement of the liver.
Portal hypertension
MedGen UID:
9375
Concept ID:
C0020541
Disease or Syndrome
Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.
Pancreatic cysts
MedGen UID:
45293
Concept ID:
C0030283
Disease or Syndrome
A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145)
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Hepatic cysts
MedGen UID:
82761
Concept ID:
C0267834
Disease or Syndrome
A cystic lesion located in the liver.
Periportal fibrosis
MedGen UID:
337906
Concept ID:
C1849766
Finding
The presence of fibrosis affecting the interlobular stroma of liver.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Renal cyst
MedGen UID:
7215
Concept ID:
C0022679
Disease or Syndrome
A fluid filled sac in the kidney.
Polycystic kidney dysplasia
MedGen UID:
9639
Concept ID:
C0022680
Disease or Syndrome
The presence of multiple cysts in both kidneys.
Enlarged kidney
MedGen UID:
108156
Concept ID:
C0542518
Finding
An abnormal increase in the size of the kidney.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Absence of renal corticomedullary differentiation
MedGen UID:
342352
Concept ID:
C1849765
Finding
A lack of differentiation between renal cortex and medulla on diagnostic imaging.
Tubulointerstitial fibrosis
MedGen UID:
370652
Concept ID:
C1969372
Pathologic Function
A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
When you're dehydrated, your body doesn't have enough fluid to work properly. An average person on an average day needs about 3 quarts of water. But if you're out in the hot sun, you'll need a lot more than that. Most healthy bodies are very good at regulating water. Elderly people, young children and some special cases - like people taking certain medications - need to be a little more careful. Signs of dehydration in adults include. -Being thirsty. -Urinating less often than usual. -Dark-colored urine. -Dry skin. -Feeling tired. -Dizziness and fainting. Signs of dehydration in babies and young children include a dry mouth and tongue, crying without tears, no wet diapers for 3 hours or more, a high fever and being unusually sleepy or drowsy. If you think you're dehydrated, drink small amounts of water over a period of time. Taking too much all at once can overload your stomach and make you throw up. For people exercising in the heat and losing a lot of minerals in sweat, sports drinks can be helpful. Avoid any drinks that have caffeine. .
Potter facies
MedGen UID:
78614
Concept ID:
C0266619
Congenital Abnormality
A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal recessive polycystic kidney disease
Follow this link to review classifications for Autosomal recessive polycystic kidney disease in Orphanet.

Professional guidelines

PubMed

Guay-Woodford LM, Bissler JJ, Braun MC, Bockenhauer D, Cadnapaphornchai MA, Dell KM, Kerecuk L, Liebau MC, Alonso-Peclet MH, Shneider B, Emre S, Heller T, Kamath BM, Murray KF, Moise K, Eichenwald EE, Evans J, Keller RL, Wilkins-Haug L, Bergmann C, Gunay-Aygun M, Hooper SR, Hardy KK, Hartung EA, Streisand R, Perrone R, Moxey-Mims M
J Pediatr 2014 Sep;165(3):611-7. Epub 2014 Jul 9 doi: 10.1016/j.jpeds.2014.06.015. PMID: 25015577Free PMC Article

Recent clinical studies

Etiology

Nieto JA, Yamin MA, Goldberg ID, Narayan P
PLoS One 2016;11(10):e0163063. Epub 2016 Oct 3 doi: 10.1371/journal.pone.0163063. PMID: 27695033Free PMC Article
Mekahli D, van Stralen KJ, Bonthuis M, Jager KJ, Balat A, Benetti E, Godefroid N, Edvardsson VO, Heaf JG, Jankauskiene A, Kerecuk L, Marinova S, Puteo F, Seeman T, Zurowska A, Pirenne J, Schaefer F, Groothoff JW; ESPN/ERA-EDTA Registry.
Am J Kidney Dis 2016 Nov;68(5):782-788. Epub 2016 Aug 21 doi: 10.1053/j.ajkd.2016.06.019. PMID: 27555106
Dell KM, Matheson M, Hartung EA, Warady BA, Furth SL; Chronic Kidney Disease in Children (CKiD) Study.
J Pediatr 2016 Apr;171:196-201.e1. Epub 2016 Jan 28 doi: 10.1016/j.jpeds.2015.12.079. PMID: 26831744Free PMC Article
Cooksey R, Woodward MN
J Pediatr Urol 2015 Dec;11(6):366-7. Epub 2015 Sep 28 doi: 10.1016/j.jpurol.2015.08.009. PMID: 26474782
Carter SA, Kitching AR, Johnstone LM
Pediatr Transplant 2014 Nov;18(7):698-705. Epub 2014 Aug 13 doi: 10.1111/petr.12332. PMID: 25118046

Diagnosis

Nieto JA, Yamin MA, Goldberg ID, Narayan P
PLoS One 2016;11(10):e0163063. Epub 2016 Oct 3 doi: 10.1371/journal.pone.0163063. PMID: 27695033Free PMC Article
Edrees BM, Athar M, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Al-Harbi N, Safar R, Al-Edressi H, Alansary K, Anazi A, Altayeb N, Ahmed MA, Abduljaleel Z
Gene 2016 Oct 10;591(1):214-26. Epub 2016 Jul 9 doi: 10.1016/j.gene.2016.07.021. PMID: 27401137
Dell KM, Matheson M, Hartung EA, Warady BA, Furth SL; Chronic Kidney Disease in Children (CKiD) Study.
J Pediatr 2016 Apr;171:196-201.e1. Epub 2016 Jan 28 doi: 10.1016/j.jpeds.2015.12.079. PMID: 26831744Free PMC Article
Obeidova L, Seeman T, Elisakova V, Reiterova J, Puchmajerova A, Stekrova J
BMC Med Genet 2015 Dec 22;16:116. doi: 10.1186/s12881-015-0261-3. PMID: 26695994Free PMC Article
Traubici J, Somers GR, Ling SC, Pearl RJ, Nathan PC
Pediatr Radiol 2011 Nov;41(11):1465-8. Epub 2011 Jul 1 doi: 10.1007/s00247-011-2026-2. PMID: 21720858

Therapy

Dell KM, Matheson M, Hartung EA, Warady BA, Furth SL; Chronic Kidney Disease in Children (CKiD) Study.
J Pediatr 2016 Apr;171:196-201.e1. Epub 2016 Jan 28 doi: 10.1016/j.jpeds.2015.12.079. PMID: 26831744Free PMC Article
Carter SA, Kitching AR, Johnstone LM
Pediatr Transplant 2014 Nov;18(7):698-705. Epub 2014 Aug 13 doi: 10.1111/petr.12332. PMID: 25118046
Luoto TT, Pakarinen MP, Jahnukainen T, Jalanko H
J Pediatr Gastroenterol Nutr 2014 Aug;59(2):190-6. doi: 10.1097/MPG.0000000000000422. PMID: 24806835
Yoshihara D, Kugita M, Sasaki M, Horie S, Nakanishi K, Abe T, Aukema HM, Yamaguchi T, Nagao S
PLoS One 2013;8(12):e81480. Epub 2013 Dec 6 doi: 10.1371/journal.pone.0081480. PMID: 24324698Free PMC Article
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T
Gastroenterology 2013 Jan;144(1):112-121.e2. Epub 2012 Oct 3 doi: 10.1053/j.gastro.2012.09.056. PMID: 23041322Free PMC Article

Prognosis

Edrees BM, Athar M, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Al-Harbi N, Safar R, Al-Edressi H, Alansary K, Anazi A, Altayeb N, Ahmed MA, Abduljaleel Z
Gene 2016 Oct 10;591(1):214-26. Epub 2016 Jul 9 doi: 10.1016/j.gene.2016.07.021. PMID: 27401137
Mallett TM, O'Hagan E, McKeever KG
BMJ Case Rep 2015 Dec 15;2015 doi: 10.1136/bcr-2015-211106. PMID: 26670891
Hoyer PF
Curr Opin Pediatr 2015 Apr;27(2):186-92. doi: 10.1097/MOP.0000000000000196. PMID: 25689455
Ling G, Landau D, Bergmann C, Maor E, Yerushalmi B
Clin Nephrol 2015 May;83(5):297-300. doi: 10.5414/CN108345. PMID: 25250579
Frank V, Zerres K, Bergmann C
Clin J Am Soc Nephrol 2014 Oct 7;9(10):1729-36. Epub 2014 Aug 7 doi: 10.2215/CJN.00920114. PMID: 25104275Free PMC Article

Clinical prediction guides

Mekahli D, van Stralen KJ, Bonthuis M, Jager KJ, Balat A, Benetti E, Godefroid N, Edvardsson VO, Heaf JG, Jankauskiene A, Kerecuk L, Marinova S, Puteo F, Seeman T, Zurowska A, Pirenne J, Schaefer F, Groothoff JW; ESPN/ERA-EDTA Registry.
Am J Kidney Dis 2016 Nov;68(5):782-788. Epub 2016 Aug 21 doi: 10.1053/j.ajkd.2016.06.019. PMID: 27555106
Edrees BM, Athar M, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Al-Harbi N, Safar R, Al-Edressi H, Alansary K, Anazi A, Altayeb N, Ahmed MA, Abduljaleel Z
Gene 2016 Oct 10;591(1):214-26. Epub 2016 Jul 9 doi: 10.1016/j.gene.2016.07.021. PMID: 27401137
Ling G, Landau D, Bergmann C, Maor E, Yerushalmi B
Clin Nephrol 2015 May;83(5):297-300. doi: 10.5414/CN108345. PMID: 25250579
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T
Gastroenterology 2013 Jan;144(1):112-121.e2. Epub 2012 Oct 3 doi: 10.1053/j.gastro.2012.09.056. PMID: 23041322Free PMC Article
Li QW, Lu XY, You Y, Sun H, Liu XY, Ai JZ, Tan RZ, Chen TL, Chen MZ, Wang HL, Wei YQ, Zhou Q
Proteomics 2012 Aug;12(15-16):2556-70. doi: 10.1002/pmic.201100590. PMID: 22718539

Recent systematic reviews

Nieto JA, Yamin MA, Goldberg ID, Narayan P
PLoS One 2016;11(10):e0163063. Epub 2016 Oct 3 doi: 10.1371/journal.pone.0163063. PMID: 27695033Free PMC Article
Guay-Woodford LM, Bissler JJ, Braun MC, Bockenhauer D, Cadnapaphornchai MA, Dell KM, Kerecuk L, Liebau MC, Alonso-Peclet MH, Shneider B, Emre S, Heller T, Kamath BM, Murray KF, Moise K, Eichenwald EE, Evans J, Keller RL, Wilkins-Haug L, Bergmann C, Gunay-Aygun M, Hooper SR, Hardy KK, Hartung EA, Streisand R, Perrone R, Moxey-Mims M
J Pediatr 2014 Sep;165(3):611-7. Epub 2014 Jul 9 doi: 10.1016/j.jpeds.2014.06.015. PMID: 25015577Free PMC Article
Srinath A, Shneider BL
J Pediatr Gastroenterol Nutr 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. PMID: 22197937Free PMC Article
Sweeney WE Jr, Avner ED
Cell Tissue Res 2006 Dec;326(3):671-85. Epub 2006 Jun 10 doi: 10.1007/s00441-006-0226-0. PMID: 16767405

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