Polycystic kidney disease

Bosniak, Morton A.; Ambos, Marjorie A.

doi:10.1016/0037-198x(75)90037-1

Cited by 46 publications

(17 citation statements)

References 28 publications

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“…All the patients were between 30 & 50 years of age. Similiar age relation has also been observed by other workers like Bosniak & Ambos 13 , Madewellet al 14 .…”

Section: Adult Polycystic Kidney Diseasesupporting

confidence: 84%

“…The use of intravenous contrast material simplified the detection and evaluation of renal masses and was essential for the staging of the renal carcinomas. 12 Bosniak (1986) 13 proposed a useful classification of cysts and cystic renal masses in an attempt to define precisely the radiological findings for lesions not requiring further evaluation and for those that should be explored surgically, he proposed the following CT criteria for a benign hypodense cyst.…”

Section: Jmscr Vol||06||issue||01||page 32169-32185||january 2018mentioning

confidence: 99%

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Role of ultrasound and CT scan in evaluation of Renal Masses

Ahmad¹

2018

jmscr

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“…All the patients were between 30 & 50 years of age. Similiar age relation has also been observed by other workers like Bosniak & Ambos 13 , Madewellet al 14 .…”

Section: Adult Polycystic Kidney Diseasesupporting

confidence: 84%

Section: Jmscr Vol||06||issue||01||page 32169-32185||january 2018mentioning

confidence: 99%

Role of ultrasound and CT scan in evaluation of Renal Masses

Ahmad¹

2018

jmscr

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“…IPCKD is a relatively rare disease with autosomal recessive inheritance and occurs more commonly in fe males than males at a ratio of 2:1 [3]. This is in contrast with the present series where the ratio is inverted.…”

Section: Resultscontrasting

confidence: 57%

Imaging of Infantile Polycystic Kidney Disease with Some Rare Association

Patel

1992

Urol Int

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Seventeen patients, age 1 day to 6 years with infantile polycystic kidney disease were evaluated with ultrasound and other imaging techniques. Most patients showed bilaterally enlarged kidneys with hyperechoic renal parenchyma, which had poor differentiation in outlines as well as between renal sinus, cortex and medulla. Cysts of various sizes were also identified in the kidneys. However, a third of these cases showed well-defined renal outlines, normal echogenic cortical rim, whilst dilated renal collecting systems were seen in another third of the cases. Twelve cases showed hepatomegaly. Few rare findings such as liver cysts, associated Meckel syndrome, renal stone, bilateral vesicoureteric reflux and renal calcification were also noted. This study confirms the diagnostic value of sonography and intravenous pyelography examination. However, the noninvasiveness and the opportunity for repeat examination in antenatal and postnatal life makes sonography the ideal investigative modality.

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“…Figures range from 1:6,000-1:14,000 [Bosniak and Ambos, 1975] to 1:55,000 [Potter, 1972]. We have previously proposed an incidence estimate of 1:40,000 [Zerres et al, 1984].…”

Section: Incidence and Heterozygosity Frequencymentioning

confidence: 97%

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

et al. 1998

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Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary renal cystic diseases and has a high infant mortality. Prenatal diagnosis using fetal sonography can be unreliable, especially in early pregnancy. The ARPKD locus has been mapped to proximal chromosome 6p allowing haplotype-based prenatal diagnosis in "at-risk" families. From December 1994 to March 1997, we received 258 inquiries regarding prenatal evaluation and we have completed analyses in 212 families. To date, 65 prenatal analyses have been performed in 57 families. In the majority of the requesting families (45/57), the index children are deceased and their DNA was extracted from paraffin-embedded tissue. Eighteen fetuses were homozygous for the disease-associated haplotypes. In 12 of these fetuses, pathoanatomical examination demonstrated typical ARPKD changes consisting of dilated collecting ducts and the characteristic hepatic ductal plate malformation. These changes were detected in two fetuses as early as 13 weeks gestational age. These cases represent the earliest demonstration of ARPKD-associated histopathology reported to date. One high risk fetus was carried to term and turned out to be unaffected. However, the diagnosis of ARPKD remained doubtful in the index patient. Forty-three fetuses were either heterozygous or homozygous for a nondisease-associated haplotype and all infants born were phenotypically unaffected at birth. In four cases, a recombination event occurred between the flanking markers and no genotypic prediction was possible. Three of these pregnancies were terminated and necropsy of the fetuses confirmed ARPKD, while one fetus was carried to term and showed no abnormalities at birth. These results show that haplotype-based prenatal testing is feasible and reliable in pregnancies "at risk" for ARPKD. An absolute prerequisite for these studies is an accurate diagnosis of ARPKD in previously affected sib(s).

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Polycystic kidney disease

Cited by 46 publications

References 28 publications

Role of ultrasound and CT scan in evaluation of Renal Masses

Role of ultrasound and CT scan in evaluation of Renal Masses

Imaging of Infantile Polycystic Kidney Disease with Some Rare Association

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

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