Cystic kidneys

@article{Zerres2004CysticK,
  title={Cystic kidneys},
  author={Klaus Zerres and Michael V{\"o}lpel and H Weiss},
  journal={Human Genetics},
  year={2004},
  volume={68},
  pages={104-135}
}
SummaryAccording to the classification of Osathanondh and Potter of cystic kidneys we give an overview of the different types of cystic changes taking genetic aspects into account. Usually pathoanatomic types do not represent genetic entities: All type I kidneys are transmitted in an autosomal recessive way with varying clinical symptoms; in rare cases they even present in adults. The relationship to “congenital hepatic fibrosis”, “cystic liver”, and to the “Caroli syndrome” is discussed. Type… 
Sonographically detectable cysts in polycystic kidney disease in newborn and young infants
TLDR
There is no specific appearance of either condition, and glomerulocystic kidney disease can apparently resemble either one, but other investigations, particularly family studies and pathologic verification, are important in order to establish the correct diagnosis.
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes
TLDR
The clinical features and differential diagnoses of this group of syndromes, including autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), Meckel-Gruber syndrome, Bardet-Biedl syndrome, and Jeune asphyxiating thoracic dystrophy are examined.
Hyperechoic kidneys in the newborn and young infant
TLDR
A systematic approach to the differential diagnosis of the hyperechoic kidney will enable the nephrologist to choose additional imaging studies and to limit the use of invasive procedures.
New Advances in Evaluation and Management of Patients with Polycystic Liver Disease
TLDR
In the symptomatic APLD patient, surgical therapy remains the mainstay of therapy and includes cyst aspiration and sclerosis, fenestration with and without hepatic resection and orthotopic liver transplantation, to include outcome measurements and complication rates.
Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.
[Early manifestation of polycystic kidney changes in tuberous sclerosis].
TLDR
There is a new differential diagnosis for the weighty prenatal diagnosis of a "Potter syndrome" or of "cystic kidneys" based on sonography and possible connections between tuberous sclerosis and distinct forms of autosomal dominant polycystic kidney disease, ADPKD are discussed.
Renal Agenesis, Dysplasia, Hypoplasia and Cystic Diseases of the Kidney
TLDR
Knowledge of the individual etiology of renal malformations helps to understand the disease process, affects further diagnostic and therapeutic management, and helps to properly evaluate the prognosis for patients and their families.
Autosomal recessive polycystic kidney disease: outcomes from a single-center experience
TLDR
In the authors' multi-ethnic ARPKD cohort, the 1-year survival rate (87%) and the clinical variability are comparable to those previously reported, with the recent identification of the PKHD1 gene.
Polycystic Kidney Disease: ADPKD and ARPKD
TLDR
This chapter aims to give an overview of the current knowledge of PKD with a special focus on pediatric aspects of the diseases.
Genetics in Nephrourology
TLDR
A common pathogenetic theory of cystogenesis allowed the first causal therapeutic trials within the last years, and autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders at all.
...
...

References

SHOWING 1-10 OF 416 REFERENCES
Juvenile nephronophthisis and renal medullary cystic disease.
TLDR
A defect in maximum urinary concentrating ability may be the best single early sign of involvement but data are scarce and diagnosis continues to rest on a high index of suspicion, aroused by a positive family history for the disease.
Glomerular cysts. An unusual variety of "polycystic kidneys": report of two cases.
TLDR
With the adoption of this term for every case exhibiting multiple primary congenital cysts in the substance of one or both kidneys, the following major varieties of polycystic kidneys can be distinguished.
Roentgenographic classification of renal cystic disease.
TLDR
A new roentgenographic classification of renal cystic disease is presented, correlating the roent genographic findings with the pathologic anatomy.
Familial bilateral renal agenesis and hereditary renal adysplasia
TLDR
In these two families, and in two others from the literature, autosomal dominant inheritance seems responsible for the presence of unilateral aplasia and bilateral adysplasia in different family members; this newly recognized genetic trait, is being designated “hereditary renal adys plasia (HRA)”.
POLYCYSTIC KIDNEY DISEASE OF PERINATAL TYPE
TLDR
This study was based on hospital and autopsy records of five girls and four boys, from seven different families, with PPKD diagnosed and treated in the authors' hospital during the years 1965-1977, and encountered no other types of polycystic kidney disease of childhood in their child autopsy material.
Familial Renal Agenesis and Total Dysplasia
TLDR
It is observed that BRA is a multifactorially determined disorder, viewed as a developmental field defect involving absence of both kidneys and ureters in all cases, and in other cases an associated spectrum of related field defects that range from absence of the uterus and vagina to sirenomelia.
Congenital hepatic fibrosis: report of two new cases and review of the literature.
TLDR
The patients with portal hypertension due to CHF are ideal candidates for portosystemic shunt and the possibility of prophylactic shunt in these patients when they are over 15 years of age is discussed.
Morphometric analysis of liver lesions in cystic diseases of childhood.
: Morphometric analysis of the liver lesions in patients with various forms of cystic disease of the liver in childhood demonstrates that the entities called the congenital, perinatal, and infantile
Morphometric analysis of liver lesions in cystic diseases of childhood.
Morphometric analysis of the liver lesions in patients with various forms of cystic disease of the liver in childhood demonstrates that the entities called the congenital, perinatal, and infantile
Adult polycystic disease of the kidneys (Potter type 3).
The majority of 58 patients with adult polycystic disease of the kidneys and liver or pancreas (Potter type 3) were asymptomatic and unsuspected antemortem. Infusion nephrotomography is the method of
...
...