Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and Histopathological Correlation

Rajanna, Dayananda Kumar; Reddy, A N Venkatesh; Srinivas, Naren Satya; Aneja, Ankur

doi:10.4103/2156-7514.109733

Cited by 15 publications

(9 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The majority of cases present in the neonatal period though the diagnosis may be suspected on prenatal ultrasound. Severely affected foetuses display a Potter-like facies [1] oligohydramnios phenotype with lethal pulmonary hypoplasia and massively enlarged echogenic kidneys, as in the above presented case. About 23%-30% of affected infants die in the neonatal period as a result of respiratory insufficiency or superimposed pulmonary infections.…”

Section: Dear Sirmentioning

confidence: 53%

See 1 more Smart Citation

Autosomal Recessive Polycystic Kidney Disease

Vigneux

2012

High-Yield Uropathology

View full text Add to dashboard Cite

Section: Dear Sirmentioning

confidence: 53%

“…[1] The causative factor is the mutations in the PKHD1 (chromosomal locus 6p12.2). [2] The disease has a wide clinical variation from stillbirth and neonatal demise to survival into adulthood; the carrier frequency for a PKHD1 mutation is estimated to be about 1:70 in general population.…”

Section: Dear Sirmentioning

confidence: 99%

Autosomal Recessive Polycystic Kidney Disease

Vigneux

2012

High-Yield Uropathology

View full text Add to dashboard Cite

“…Autosomal recessive polycystic kidney disease occurs at a lower frequency than its genetic counterpart, ADPKD, with incidence being about 1:20,000 live births ( 3 ), with rates ranging from 1:6,000 to 1:55,000 ( 1 , 4 ). Many affected infants may die during the neonatal period secondary to respiratory failure, suggesting that these incidence rates actually may underestimate the true number of individuals with ARPKD.…”

Section: Epidemiology and Early Developmental Course Of Arpkdmentioning

confidence: 99%

Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease

Hooper

2017

Front. Pediatr.

View full text Add to dashboard Cite

This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population. ARPKD typically is discovered at the end of pregnancy or during the neonatal developmental period and occurs in approximately 1 in 20,000 live births. During the neonatal period, there is a relatively high risk of death, with many infants dying from respiratory failure. As the child ages, they experience progressive kidney disease and become increasingly vulnerable to liver disease, with many individuals eventually requiring dual organ transplants. This mini review provides a brief description of ARPKD and describes the various factors that place children with ARPKD at risk for neurological and neuropsychological impairment (e.g., a genetic condition leading to chronic kidney disease and eventual transplant; difficult-to-treat hypertension; eventual liver disease; possible dual transplantation of the kidneys and liver; chronic lung disease), including that these factors are present during a critical period of brain development. Further, the mini review discusses the available studies that have addressed the neurocognitive functioning in children with ARPKD. This paper concludes by providing the key clinical and research challenges that face the field of pediatric nephrology with respect to the clinical and scientific study of the neurocognitive functioning of children with ARPKD. Selected directions are offered in both the clinical and research arenas for this multiorgan chronic condition.

show abstract

“…Although the pathogenesis of NPHP and ARPKD results from mutations in different genetic loci [6,11,12,13], both are monogenic renal cystic disorders, which share common cellular and macroscopic features of cyst development [2,14,15]. The disorders also have common clinical presentation, which include infantile incidence, renal failure, anemia, polyuria without hematuria, proteinuria and hypertension [10,16].…”

Section: Introductionmentioning

confidence: 99%

Modifier loci in non-mutant, female Wistar Kyoto rats influence cellular pathogenesis of nephronophthisis in Lewis polycystic kidney rats

Yengkopiong¹,

Lako²

2015

pjp

View full text Add to dashboard Cite

Genetic modifier loci influence the inheritance of diseases and lead to variability in phenotype progression. We report the influence of modifier loci in female Wistar Kyoto (WKY) rats on cellular pathogenesis of nephronophthisis inherited from Lewis polycystic kidney (LPK) rats. The loci modified cellular expression and progression of nephronophthisis in the backcross 1 (BC1) progeny. Mating experiments to produce BC1 progeny were carried out between three male LPK and seven female WKY rats. Fifteen female rats from the F1 generation were mated with the male LPK rats to produce the BC1 progeny. The rats with cystic kidney disease were identified and histology of the kidneys was carried out. Mapping studies and linkage analysis were carried out to identify the modifier loci. The BC1 progeny were less affected than the LPK strain with respect to disease severity and progression of the kidneys to end stage renal disease. It was found that the mean values of all the disease phenotypes of the mutant BC1 progeny were significantly different from those of the LPK rats, and these segregated with the genotypes of the markers located on chromosomes 5q34-q36 and 7q11-q34, giving maximum LOD scores greater than 3 (p < 0.001).

show abstract

Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and Histopathological Correlation

Cited by 15 publications

References 13 publications

Autosomal Recessive Polycystic Kidney Disease

Autosomal Recessive Polycystic Kidney Disease

Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease

Modifier loci in non-mutant, female Wistar Kyoto rats influence cellular pathogenesis of nephronophthisis in Lewis polycystic kidney rats

Contact Info

Product

Resources

About