Congenital Hepatic Fibrosis as an Early Sign of Presentation of ADPKD.

Autosomal polycystic kidney disease ADKPD congenital hepatic fibrosis CHF

Journal

Balkan journal of medical genetics : BJMG
ISSN: 1311-0160
Titre abrégé: Balkan J Med Genet
Pays: Poland
ID NLM: 9806959

Informations de publication

Date de publication:
May 2023
Historique:
medline: 2 6 2023
pubmed: 2 6 2023
entrez: 2 6 2023
Statut: epublish

Résumé

Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent type of polycystic kidney disease. It is inherited through family members, with an incidence of approximately 1:400 to1:1000.Typically, individuals with ADKPD are identified between their fourth and fifth decade of life. ADKPD occurs as a results of mutation in one of the two genes,

Identifiants

pubmed: 37265976
doi: 10.2478/bjmg-2022-0024
pii: bjmg-2022-0024
pmc: PMC10230838
doi:

Types de publication

Journal Article

Langues

eng

Pagination

91-95

Informations de copyright

© 2022 Sila L. et al., published by Sciendo.

Références

Lancet. 2007 Apr 14;369(9569):1287-1301
pubmed: 17434405
Gastroenterol Res Pract. 2020 Apr 21;2020:8284274
pubmed: 32382272
Clin Genet. 1978 Aug;14(2):61-72
pubmed: 688689
Zhonghua Gan Zang Bing Za Zhi. 2016 Oct 20;24(10):728-731
pubmed: 27938556
Q J Med. 1961 Jan;30:91-117
pubmed: 13752660
Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):296-306
pubmed: 19876928
Clin Pediatr (Phila). 1968 May;7(5):299-306
pubmed: 4296826
Kidney Med. 2020 Feb 22;2(2):196-208
pubmed: 32734239
Medicine (Baltimore). 1971 Jul;50(4):277-318
pubmed: 5143572
J Pediatr. 1975 Nov;87(5):760-3
pubmed: 1185344
Surgery. 1973 Jan;73(1):53-8
pubmed: 4683279
Can Med Assoc J. 1967 Nov 18;97(21):1272-8
pubmed: 6054927
J Pak Med Assoc. 2016 Aug;66(8):984-8
pubmed: 27524533
Cancer. 1977 Jun;39(6):2619-23
pubmed: 194672
Pediatr Radiol. 1993;23(2):131-3
pubmed: 8516038
Proc R Soc Med. 1968 Mar;61(3):304
pubmed: 5645972
Gastroenterology. 1973 Apr;64(4):653-6
pubmed: 4573445
Ann Surg. 1971 Oct;174(4):711-26
pubmed: 5098229
Nat Rev Dis Primers. 2018 Dec 6;4(1):50
pubmed: 30523303
J Med Genet. 1971 Sep;8(3):257-84
pubmed: 5097134
J Pediatr. 1974 Dec;85(6):807-10
pubmed: 4419701

Auteurs

L Sila (L)

Pediatric department, "Mother Teresa" Hospital - Tirana, Tirana, Albania.

V Velmishi (V)

Service of pediatric gastroenterology, "Mother Teresa" Hospital - Tirana, Tirana, Albania.

B Saraci (B)

Service of pediatric radiology "Mother Teresa" Hospital - Tirana, Tirana, Albania.

E Dervishi (E)

Service of pediatric gastroenterology, "Mother Teresa" Hospital - Tirana, Tirana, Albania.

S Sila (S)

Service of pediatric anesthesiology "Mother Teresa" Hospital - Tirana, Tirana, Albania.

D Shtiza (D)

Service of pediatric nephrology "Mother Teresa" Hospital - Tirana, Tirana, Albania.

P Cullufi (P)

Service of pediatric gastroenterology, "Mother Teresa" Hospital - Tirana, Tirana, Albania.

Classifications MeSH