Screening for polycystic kidney disease: importance of clinical presentation in the newborn.

Taitz, L S; Brown, C B; Blank, Cheryl; Steiner, G.

doi:10.1136/adc.62.1.45

Cited by 27 publications

(8 citation statements)

References 14 publications

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“…The so-called adult polycystic disease is increasingly recognized in neonates [16][17][18][19]. The prevalence in the general population of 1/500 to 1/1,000 [20].…”

Section: Cystic Massesmentioning

confidence: 99%

Renal Masses in the Neonate

Pinto¹,

Guignard²

1995

Neonatology

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Abdominal masses are frequent in newborn infants, two thirds being renal in origin. After thorough palpation of the abdomen, cystic masses must be differentiated from solid masses by ultrasound examination. The common benign cystic masses include hydronephrosis, multicystic dysplasia, polycystic disease, and adrenal hemorrhage. Solid masses include renal vein thrombosis, a renal ectopic kidney, or horseshoe kidneys. Occasionally, a renal mass may be malignant and correspond to congenital mesoblastic nephroma, Wilms’ tumor, or fetal hamartoma. Whatever the nature of the renal mass, early intervention may save the kidney or the patient.

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“…The so-called adult polycystic disease is increasingly recognized in neonates [16][17][18][19]. The prevalence in the general population of 1/500 to 1/1,000 [20].…”

Section: Cystic Massesmentioning

confidence: 99%

Renal Masses in the Neonate

Pinto¹,

Guignard²

1995

Neonatology

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“…On the other hand, it has become almost commonplace that ADPKD may occur at any age, including neonatally, in infancy, in childhood, and even prenatally [9,18,19,25,29,30,34]. Factors leading to early onset ADPKD are not known, and represent a major topic of scientific interest, research and debate; specific "predisposing" genotypes, "modifying" alleles, exogenous factors, as well as parental influences have been suggested, but none demonstrated [33].…”

Section: Discussionmentioning

confidence: 98%

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

Turco¹,

E²,

Peissel³

et al. 1995

Jpme

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Bilateral polycystic kidneys were detected by ultrasound at 23 weeks gestation in a male fetus. Bilateral renal cysts were subsequently also found in the asymptomatic propositus' mother and grandmother, suggesting the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). The renal ultrasonograms showed cortical cysts with normal or decreased-sized kidneys. Renal function was normal. Seven available members of the family were genotyped for flanking DNA markers tightly linked to the PKD1 gene on chromosome 16p, and for a polymorphism close to a second putative disease gene (PKD2) on chromosome 2. The genetic linkage approach allowed us to detect with a high degree of accuracy the ADPKD1 at risk chromosome in the three patients, as well as in a 28-year-old unaffected female. This report illustrates the feasibility and the usefulness of recent molecular genetic strategies for diagnostic purposes in ADPKD, especially when clinical and radiological data are atypical. Furthermore, it also confirms that early or very early onset forms of the disease are not uncommon, and should be considered in the differential diagnosis of childhood cystic disease.

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“…Zerres et al (1985) pointed out that, in the early stages, cyst location may be asymetric; this may persist for years. In infants, several authors found cases of unilateral presentation of ADPKD (Strand et al 1989;Taitz et al 1987;Porch et al 1986). The only availabe longitudinal ultrasonographic study has been reported by Sedman et al (1987).…”

Section: Discussionmentioning

confidence: 99%

Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression

et al. 1990

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We describe a large three generation family with autosomal dominant polycystic kidney disease (PKD). Ultrasonographic screening of 60 family members revealed 20 individuals, whose age ranged from ten to eighty years, with one or several cysts in only one kidney and 7 individuals with cysts in both kidneys. Transmission of unilateral cysts seems to be autosomal dominant, although there are some generation gaps. Linkage studies with several markers of the PKD1 locus on the short arm of chromosome 16 showed no linkage with the disease. Lod scores for linkage between the disease and the most informative marker 3'HVR were computed using different penetrance models and several hypotheses concerning the clinical status of individuals with unilateral renal cysts. Results varied from Z = 1.31 to Z = -21.47 (theta = 0). Smith's test of heterogeneity gave a conditional probability of non-linkage between 0.9 and 1.0. We conclude that this family presents a form of autosomal dominant PKD with reduced penetrance and no linkage to the PKD1 locus on the short arm of chromosome 16. Other hypotheses, such as the existence of two distinct hereditary diseases in this large family, or neomutation in one branch of the family associated with a high frequency of isolated renal cysts, are also considered.

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Screening for polycystic kidney disease: importance of clinical presentation in the newborn.

Cited by 27 publications

References 14 publications

Renal Masses in the Neonate

Renal Masses in the Neonate

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression

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