Infantile Polycystic Disease of the Kidneys and Liver

Lieberman, Ellin; Salinas-Madrigal, Luis; Jl, Gwinn; Lp, Brennan; Rn, Fine; Bh, Landing

doi:10.1097/00005792-197107000-00003

Cited by 180 publications

(21 citation statements)

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“…Lieberman and associates have also noted that some children with IPCKD have a reduction in renal size during childhood [12]. In our patient, the renal length returned to normal by ultrasonographic examination during the second year of life.…”

Section: Discussionsupporting

confidence: 63%

“…Renal function may be normal though several previous reports have [2,3,9,12] described decreased gtomerular filtration rates with some patients requiring dialysis or renal transplantation. Our patient's serum creatinine was normal and, had gestational ultrasonography not been obtained, this infant's cystic renal enlargement may have escaped detection.…”

Section: Discussionmentioning

confidence: 98%

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Ultrasonographic features of glomerulocystic disease in infancy: similarity to infantile polycystic kidney disease

Fitch

Stapleton

1986

Pediatr Radiol

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Glomerulocystic kidney disease (GCD) is an unusual condition characterized pathologically by cystic dilatation of Bowman's space and the first portion of the proximal convoluted tubule. We report the serial ultrasound findings in an asymptomatic infant with GCD which were initially confused with infantile polycystic kidney disease. We emphasize the nonspecificity of ultrasonographic findings in cystic renal disease in early infancy and suggest a protocol for the diagnostic work-up of bilateral renal cystic disease in children.

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Section: Discussionsupporting

confidence: 63%

Section: Discussionmentioning

confidence: 98%

Ultrasonographic features of glomerulocystic disease in infancy: similarity to infantile polycystic kidney disease

Fitch

Stapleton

1986

Pediatr Radiol

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“…There is considerable variability in the degree of involvement of the kidneys and the liver in this condition, leading to a wide range of clinical severity [2,3]. The condition has recently been mapped to chromosome 6, and there is no evidence of genetic heterogeneity [4,5].…”

Section: Introductionmentioning

confidence: 99%

Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors

Roy

Dillon

Trompeter

et al. 1997

Pediatric Nephrology

190

134

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Autosomal recessive polycystic kidney disease causes renal and hepatic dysfunction in childhood. We describe the clinical outcome of 52 children with this diagnosis born between 1950 and 1993. Currently 23 are alive, 24 dead and 5 have been lost to follow-up; 1 has been dialysed and 7 transplanted. Life-table analysis of the patients surviving the 1st month of life revealed an actuarial renal survival of 86% at 1 year and 67% at 15 years. The probability of requiring anti-hypertensive treatment was 39% at 1 year and 60% at 15 years of age. Bleeding from gastro-oesophageal varices occurred in 8 patients at a mean age of 12.5 years, and was preceded by haematological evidence of hypersplenism in 6 of them. The study indicates a relatively good prognosis for patients with this condition who survive the neonatal period and emphasises the importance of early detection and appropriate management of systemic and portal hypertension.

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“…ARPKD affects 1 in 20,000 individuals and is characterized by aberrant epithelial cell proliferation, which causes cystic dilation of the renal collecting ducts, and abnormal development of intrahepatic bile ducts (1). Affected individuals present with bilateral kidney enlargement, intrauterine kidney failure, and oligohydramnios; the latter causes pulmonary hypoplasia and limb and facial abnormalities.…”

mentioning

confidence: 99%

“…Section 1734 solely to indicate this fact. 1 To whom correspondence should be addressed: Dept. C-terminal fragment of polycystin-1 has also been shown to interact with STAT6 and the coactivator p100 in the nucleus.…”

mentioning

confidence: 99%

Proteolytic Cleavage and Nuclear Translocation of Fibrocystin Is Regulated by Intracellular Ca2+ and Activation of Protein Kinase C

Hiesberger

Gourley

Erickson

et al. 2006

Journal of Biological Chemistry

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Fibrocystin, a type I membrane protein of unknown function, is the protein affected in the autosomal recessive form of polycystic kidney disease. Here we show that fibrocystin undergoes regulated proteolysis. Several proteolytic cleavages occur within the predicted ectodomain, whereas at least one cleavage occurs within the cytoplasmic portion. The latter generates a C-terminal intracellular fragment that harbors the nuclear localization signal KRKVSRLAVTGERTATPAPKIPRIT and translocates to the nucleus. Proteolytic cleavage of fibrocystin occurs constitutively in long term cultures of polarized inner medullary collecting duct cells (mIMCD-3). Activation of protein kinase C and release of intracellular Ca 2؉ are required for proteolysis under these conditions. In short term cultures of human embryonic kidney 293 cells (HEK-293), proteolytic cleavage of fibrocystin can be elicited by stimulation of intracellular Ca 2؉ release or activation of protein kinase C. These results identify a novel Ca 2؉ -dependent pathway that signals from fibrocystin located in the cell membrane to the nucleus. Autosomal recessive polycystic kidney disease (ARPKD)2 is a hereditary cause of kidney failure in infants and children. ARPKD affects 1 in 20,000 individuals and is characterized by aberrant epithelial cell proliferation, which causes cystic dilation of the renal collecting ducts, and abnormal development of intrahepatic bile ducts (1). Affected individuals present with bilateral kidney enlargement, intrauterine kidney failure, and oligohydramnios; the latter causes pulmonary hypoplasia and limb and facial abnormalities. Children who survive the perinatal period or develop ARPKD later in life develop chronic kidney disease and portal hypertension due to congenital hepatic fibrosis.ARPKD is caused by mutations of the polycystic kidney and hepatic disease gene 1 (PKHD1) located on chromosome 6 (2). The protein encoded by PKHD1 is termed fibrocystin (also called polyductin, or tigmin (3-5)). Fibrocystin is an ϳ500,000 dalton type I membrane protein comprised of a large N-terminal ectodomain, a single transmembrane segment, and a short C-terminal cytoplasmic domain. The ectodomain contains arrays of IPT (Ig-like, plexins, transcription factors) domains and PbH1 (parallel ␤-helix repeats) domains. The structure of fibrocystin suggests that it may function as a receptor for an as yet unidentified ligand. However, the authentic function of fibrocystin and the mechanism of signal transduction remain unknown. Recent studies suggest that the molecular pathogenesis of PKD may involve primary cilia and associated Ca 2ϩ -dependent signaling (6). Primary cilia are present on the apical membrane of renal tubular epithelial cells, and bending of the cilia in response to fluid flow shear stress elicits an increase in cytosolic Ca 2ϩ concentration ([Ca 2ϩ ]). Polycystin-1 and polycystin-2, which are affected in the autosomal dominant form of PKD, are located in primary cilia and are required for an initial Ca 2ϩ influx that is triggered by flu...

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Infantile Polycystic Disease of the Kidneys and Liver

Cited by 180 publications

References 0 publications

Ultrasonographic features of glomerulocystic disease in infancy: similarity to infantile polycystic kidney disease

Ultrasonographic features of glomerulocystic disease in infancy: similarity to infantile polycystic kidney disease

Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors

Proteolytic Cleavage and Nuclear Translocation of Fibrocystin Is Regulated by Intracellular Ca2+ and Activation of Protein Kinase C

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