Polycystic disease of kidney and liver presenting in childhood.

Blyth, Harry; Ockenden, B. G.

doi:10.1136/jmg.8.3.257

Cited by 332 publications

(141 citation statements)

References 33 publications

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“…Polycystic disease in children has been called infantile polycystic disease and further divided into three categories, all of which have various amounts of hepatic portal fibrosis: 1) polycystic disease of early infancy, 2) polycystic disease of childhood, and 3) congenital hepatic fibrosis [2]. Other researchers [3] interpret the age-related differences in polycystic disease of children as evidence of genetic heterogeneity. Their classification indicates that each type has a characteristic age distribution with decreased cystic involvement of the kidney and increased hepatic fibrosis with advancing age.…”

Section: Discussionmentioning

confidence: 99%

“…Adult polycystic disease is rare in young children [3], whereas the disorder in the Cairn Terriers occurred in young puppies. As the condition had not been described previously in the family of these puppies, or even in this breed, it apparently is not a dominant trait.…”

Section: Discussionmentioning

confidence: 99%

“…Polycystic disease in children is less common than adult polycystic disease. Siblings often are affected [3,91. The kidneys are enlarged and reniform and the capsules are not grossly distorted.…”

Section: Discussionmentioning

confidence: 99%

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Polycystic Disease of the Kidney and Liver in the Cairn Terrier

McKenna

Carpenter

1980

Vet Pathol

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Polycystic Disease of the Kidney and Liver in the Cairn Terrier

McKenna

Carpenter

1980

Vet Pathol

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“…5 However, there is some intrafamilial variability, which may be extreme in a small proportion of patients presenting with fetal enlarged hyperechogenic kidneys resembling the phenotype observed in autosomal recessive PKD. Prognosis of these prenatal ADPKD patients was initially reported as poor, [6][7][8] but a more recent series reported a favorable prognosis in most patients, at least in childhood. 9 Although prenatal ADPKD is a rare condition, recurrence of patients in the same families suggested the involvement of genetic factors.…”

mentioning

confidence: 99%

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

Audrézet

Corbiere

Lebbah

et al. 2016

Journal of the American Society of Nephrology

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Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families. Two patients were associated with de novo PKD1 mutations. Forty patients occurred in 39 families with known ADPKD and were associated with PKD1 mutation in 36 families and with PKD2 mutation in two families (no mutation identified in one family). Additional PKD variation(s) (inherited from the unaffected parent when tested) were identified in 15 of 42 patients (37.2%), whereas these variations were observed in 25 of 174 (14.4%, P=0.001) patients with adult ADPKD. No HNF1B variations or PKHD1 biallelic mutations were identified. These results suggest that, at least in some patients, the severity of the cystic disease is inversely correlated with the level of polycystin 1 function.

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“…Pathological examinations performed during autopsy in patients affected with severe nephropathy (subgroup of 40%) confirmed the diagnosis of ARPKD (C) (D). 4,5 Dilation and hyperplasia of collecting duct are observed, which may appear cystic, without involvement of the nephron.…”

Section: Recommendationmentioning

confidence: 99%