Polycystic Kidney Disease 4 with or without Polycystic Liver Disease

Alternative Names

  • PKD4
  • Polycystic Kidney Disease 4 with or without Hepatic Disease
  • Polycystic Kidney Disease, Autosomal Recessive
  • ARPKD
  • Polycystic Kidney and Hepatic Disease 1
  • PKHD1
  • Polycystic Kidney Disease, Infantile, Type I
  • PKD3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

OMIM Number

263200

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6p12.3-p12.2

Description

Autosomal recessive polycystic kidney disease is one of the most common pediatric, hereditary nephropathies. The clinical spectrum is variable and depends on the age at presentation, ranging from stillbirth and neonatal demise to survival into adulthood. A considerable portion of children with autosomal recessive polycystic kidney disease have associated asymptomatic Caroli disease of the liver.

Autosomal recessive polycystic kidney disease is caused by mutation in the polycystic kidney and hepatic disease 1 (PKHD1) gene, mapped to chromosome 6p21.1-p12.

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
263200.1.1Saudi ArabiaUnknownYes Polycystic kidney dysplasia; Abnormal...NM_138694.3:c.4870C>THomozygousAutosomal, RecessiveAl-Hamed et al. 2016
263200.2.1Saudi ArabiaUnknownYes Polycystic kidney dysplasia; Hepatic cy...NM_138694.3:c.4870C>THomozygousAutosomal, RecessiveAl-Hamed et al. 2016
263200.3.1Saudi ArabiaUnknownYes Polycystic kidney dysplasia;NM_138694.3:c.4870C>THomozygousAutosomal, RecessiveAl-Hamed et al. 2016
263200.4.1Saudi ArabiaUnknownYesYes Polycystic kidney dysplasia; Hepatomega...NM_138694.3:c.3539G>AHomozygousAutosomal, RecessiveAl-Hamed et al. 2016 Presumed homozygous
263200.5Saudi ArabiaUnknown Polycystic kidney dysplasiaNM_138694.3:c.5725C>THeterozygousEdrees et al. 2016
263200.6Saudi ArabiaUnknown Polycystic kidney dysplasiaNM_138694.3:c.2027C>GHeterozygousEdrees et al. 2016
263200.7Saudi ArabiaUnknown Polycystic kidney dysplasiaNM_138694.3:c.1736C>THeterozygousEdrees et al. 2016
263200.8Saudi ArabiaUnknown Polycystic kidney dysplasiaNM_138694.3:c.10628T>GHomozygousAutosomal, RecessiveEdrees et al. 2016
263200.9LebanonUnknownNo Polycystic kidney dysplasia; Multiple re...NM_138694.4:c.7912-5T>GHeterozygousAutosomal, DominantJalkh et al. 2019
263200.10LebanonUnknownNo Renal insufficiencyNM_138694.4:c.4417C>THeterozygousAutosomal, DominantJalkh et al. 2019

Other Reports

Kuwait

Al-Eisa et al. (2004) conducted a retrospective study of all children less than 16 years of age with end-stage renal disease treated in the pediatric nephrology unit in Kuwait over a period of 8 years (January 1995 to December 2002). Of the 48 children, autosomal-recessive polycystic renal disease was diagnosed in 8%. 

Lebanon

Barbari et al. (2003) surveyed all the dialysis centers in Lebanon and found polycystic kidney disease to be one of the most common diagnoses in 925 patients reviewed. 

Oman

Rajab et al. (2005) undertook a study to estimate the prevalence of commonly diagnosed autosomal recessive diseases in Oman from a hospital-based register in years 1993 to 2002. The study revealed that polycystic kidney disease was diagnosed in 34 patients, with an observed incidence of 1 in 12,000 births.

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in an Omani hospital in Nizwa. Of the 21,988 total births in the hospital, four children were born with Polycystic Kidney Disease. Sawardekar (2005) hinted for a possible genetic contribution in these children.

Palestine

Finer et al. (2004) studied 18 ARPKD patients from 7 extended Bedouin families, and found inter- and intra-familial phenotypic variability. They also used haplotype analysis to to establish a genetic method for prenatal diagnosis of the disease.

Saudi Arabia

 Patel (1992) evaluated 17 patients, age 1 day to 6 years with infantile polycystic kidney disease using imaging techniques.

Mattoo et al. (1994) described 15 Arab children (8 males, 7 females) with autosomal recessive polycystic kidney disease (ARPKD).

 

Tunisia

Boutheina et al. (2000) carried out 43 prenatal diagnoses of lethal urinary tract abnormalities during a five-year-period. Autosomal recessive polycystic kidney disease (16%) was diagnosed in 16% of the patients. 

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