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Autosomal recessive polycystic kidney disease(ARPKD)

MedGen UID:
39076
Concept ID:
C0085548
Disease or Syndrome
Synonyms: AR polycystic kidney disease; ARPKD; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; Polycystic kidney disease, infantile type; POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
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)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related genes: DZIP1L, PKHD1
 
Monarch Initiative: MONDO:0009889
OMIM®: 263200
Orphanet: ORPHA731

Disease characteristics

Autosomal recessive polycystic kidney disease – PKHD1 (ARPKD-PKHD1) is characterized by primary involvement of the kidneys and liver with mostly secondary effects seen in other organ systems. Of the three ages of initial presentation of kidney disease, the two most common are perinatal (i.e., prenatal/neonatal) and infantile (four weeks to age one year) with the classic finding of enlarged kidneys. The major difference between the perinatal and infantile presentations, which typically have similar kidney and liver findings, is the frequent occurrence of pulmonary involvement in the perinatal presentation, which is a major cause of morbidity and mortality in neonates. The less common initial presentation in childhood (after age one year) to young adulthood can be associated with predominant hepatobiliary manifestations characterized by the clinical consequences of developmental anomalies of biliary ductal plate remodeling (also known as Caroli disease). Although the short-term and long-term mortality rates of ARPKD remain significant, the survival of individuals with ARPKD has improved with modern neonatal respiratory support, kidney replacement therapy (KRT) including dialysis and kidney transplantation (KTx), and liver transplantation (LTx) or combined liver and kidney transplantation (CLKTx). [from GeneReviews]
Authors:
Kathrin Burgmaier  |  Charlotte Gimpel  |  Franz Schaefer, et. al.   view full author information

Additional description

From MedlinePlus Genetics
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.

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.

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.  https://medlineplus.gov/genetics/condition/polycystic-kidney-disease

Term Hierarchy

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

Professional guidelines

PubMed

Boerrigter MM, Bongers EMHF, Lugtenberg D, Nevens F, Drenth JPH
Eur J Med Genet 2021 Mar;64(3):104160. Epub 2021 Feb 6 doi: 10.1016/j.ejmg.2021.104160. PMID: 33556586
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C
Am J Kidney Dis 2021 Jul;78(1):125-141. Epub 2021 Jan 6 doi: 10.1053/j.ajkd.2020.10.021. PMID: 33418012
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

Burgmaier K, Broekaert IJ, Liebau MC
Adv Kidney Dis Health 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005. PMID: 38097335
Yang H, Sieben CJ, Schauer RS, Harris PC
Adv Kidney Dis Health 2023 Sep;30(5):397-406. doi: 10.1053/j.akdh.2023.04.004. PMID: 38097330Free PMC Article
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium
Kidney Int 2021 Sep;100(3):650-659. Epub 2021 Apr 30 doi: 10.1016/j.kint.2021.04.019. PMID: 33940108
Zahid R, Akram M, Rafique E
Int J Immunopathol Pharmacol 2020 Jan-Dec;34:2058738420966083. doi: 10.1177/2058738420966083. PMID: 33125856Free PMC Article
Kagan KO, Dufke A, Gembruch U
Curr Opin Obstet Gynecol 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. PMID: 28151755

Diagnosis

Goggolidou P, Richards T
Biochim Biophys Acta Mol Basis Dis 2022 Apr 1;1868(4):166348. Epub 2022 Jan 12 doi: 10.1016/j.bbadis.2022.166348. PMID: 35032595
Hasbaoui BE, Rifai Z, Saghir S, Ayad A, Lamalmi N, Abilkassem R, Agadr A
Pan Afr Med J 2021;38:188. Epub 2021 Feb 18 doi: 10.11604/pamj.2021.38.188.27941. PMID: 33995794Free PMC Article
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C
Am J Kidney Dis 2021 Jul;78(1):125-141. Epub 2021 Jan 6 doi: 10.1053/j.ajkd.2020.10.021. PMID: 33418012
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE
Nat Rev Dis Primers 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. PMID: 30523303Free 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

Therapy

Cordido A, Vizoso-Gonzalez M, Garcia-Gonzalez MA
Int J Mol Sci 2021 Jun 17;22(12) doi: 10.3390/ijms22126523. PMID: 34204582Free PMC Article
Grenda R, Kaliciński P
Pediatr Nephrol 2018 Dec;33(12):2227-2237. Epub 2018 Jan 10 doi: 10.1007/s00467-017-3880-4. PMID: 29322327Free PMC Article
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
Telega G, Cronin D, Avner ED
Pediatr Transplant 2013 Jun;17(4):328-35. Epub 2013 Apr 17 doi: 10.1111/petr.12076. PMID: 23593929Free PMC Article
Sweeney WE Jr, Avner ED
Pediatr Nephrol 2011 May;26(5):675-92. Epub 2010 Oct 29 doi: 10.1007/s00467-010-1656-1. PMID: 21046169

Prognosis

Burgmaier K, Broekaert IJ, Liebau MC
Adv Kidney Dis Health 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005. PMID: 38097335
Goggolidou P, Richards T
Biochim Biophys Acta Mol Basis Dis 2022 Apr 1;1868(4):166348. Epub 2022 Jan 12 doi: 10.1016/j.bbadis.2022.166348. PMID: 35032595
Society for Maternal-Fetal Medicine (SMFM), Swanson K
Am J Obstet Gynecol 2021 Nov;225(5):B7-B8. Epub 2021 Sep 8 doi: 10.1016/j.ajog.2021.06.038. PMID: 34507795
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium
Kidney Int 2021 Sep;100(3):650-659. Epub 2021 Apr 30 doi: 10.1016/j.kint.2021.04.019. PMID: 33940108
Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE
Nat Rev Dis Primers 2018 Dec 6;4(1):50. doi: 10.1038/s41572-018-0047-y. PMID: 30523303Free PMC Article

Clinical prediction guides

Hiratsuka K, Miyoshi T, Kroll KT, Gupta NR, Valerius MT, Ferrante T, Yamashita M, Lewis JA, Morizane R
Sci Adv 2022 Sep 23;8(38):eabq0866. Epub 2022 Sep 21 doi: 10.1126/sciadv.abq0866. PMID: 36129975Free PMC Article
Guan Y, Enejder A, Wang M, Fang Z, Cui L, Chen SY, Wang J, Tan Y, Wu M, Chen X, Johansson PK, Osman I, Kunimoto K, Russo P, Heilshorn SC, Peltz G
Nat Commun 2021 Oct 22;12(1):6138. doi: 10.1038/s41467-021-26410-9. PMID: 34686668Free PMC Article
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group, Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium
Kidney Int 2021 Sep;100(3):650-659. Epub 2021 Apr 30 doi: 10.1016/j.kint.2021.04.019. PMID: 33940108
Benz EG, Hartung EA
Pediatr Nephrol 2021 Sep;36(9):2639-2658. Epub 2021 Jan 21 doi: 10.1007/s00467-020-04869-w. PMID: 33474686Free PMC Article
Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G
J Mol Med (Berl) 1998 Apr;76(5):303-9. doi: 10.1007/s001090050221. PMID: 9587064

Recent systematic reviews

Gimpel C, Liebau MC, Schaefer F
Pediatr Nephrol 2021 Dec;36(12):3841-3851. Epub 2021 Aug 12 doi: 10.1007/s00467-021-05192-8. PMID: 34386850Free PMC Article

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