Cystic kidneys

Abstract

According 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 II kidneys are usually not genetic in origin; but they may occur as part of several syndromes. Rarely genetic factors might contribute to type II kidneys that may present as familial cases of Potter syndrome ("renal non-function syndrome"). Type IV kidneys, although different in their pathoanatomic picture can be regarded according to a common pathogenetic theory as part of the spectrum of malformations as in type II. Therefore the genetic interpretation of type II kidneys also applies to type IV lesions. Type III kidneys include autosomal dominant polycystic kidney disease. This type may already present in childhood; the first prenatal diagnosis by ultrasonography is described in detail. Furthermore type III changes are part of syndromes or non-hereditary malformation complexes, and often present only as mild manifestations. Diseases with isolated involvement of the medulla (juvenile nephronophthisis/medullary cystic disease) or cortex are described as part of the differential diagnosis, they are heterogeneous and genetically only partly understood. Syndromes with cystic kidneys are reviewed as well as the possibilities of prenatal diagnosis of cystic diseases. Reliable prenatal diagnosis is only possible in type II, and possible in some of the other types. The nosology is improved if genetic information is taken into account.

Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

“…Based on clinical evaluations at the NIH, 78 of the 90 patients fulfilled the established clinical diagnostic criteria for ARPKD and CHF, that is, typical kidney and liver involvement on imaging and/or biopsy and autosomal recessive inheritance. 3,24 In 73 of these 78 patients, we confirmed the diagnosis molecularly by finding at least one PKHD1 mutation. 25 In this report, we present clinical, molecular, functional, and imaging data from these 73 patients with molecularly confirmed ARPKD and CHF.…”

Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors

“…However, recent descriptions of CHF occurring in families with ADPKD confirmed by genetic linkage have indicated that this feature cannot be used in the differential diagnosis of ARPKD [19]. The absence of glomerular cysts on renal hisopathology supports the diagnosis of ARPKD [20]; however, in late presenters, increasing fibrosis distorts the architecture of the kidney making detection of cyst origin difficult [2,20]. Pending discovery of the specific genetic abnormality in ARPKD, therefore, absolute confirmation of this disorder in sporadic cases is sometimes difficult, and must depend on the clinical, radiological and/or histopathological demonstration of characteristic renal and hepatic abnormalities, together with family studies that support autosomal recessive inheritance.…”

“…The clinical notes and available investigations of these patients were reviewed, and patients were included if they fulfilled the following three criteria: (1) evidence of renal involvement on the basis of one or more of the following investigations: (a) intravenous urogram (IVU) showing large kidneys with streaky contrast opacification in dilated collecting ducts [10]; (b) histopathological diagnosis of ARPKD made from examination of renal biopsy/post-mortem/nephrectomy specimens, with the presence of cystic dilation of collecting ducts and the absence of glomerular cysts [9,11]; (2) evidence of hepatic involvement on the basis of one or more of the following: (a) clinical or ultrasonic evidence of portal hypertension; (b) 99m-technetium hippuran imidoacetic acid scan showing patchy isotope distribution in the liver, with stasis of isotope within dilated bile ducts and delayed transit to the duodenum [12,13]; (c) histopathological examination of liver biopsy or post-mortem specimens showing congenital hepatic fibrosis (CHF) [14]; (3) detailed family history compatible with autosomal recessive inheritance, with parents being unaffected clinically in all cases.…”

Hypertension in Children with Cystic Kidney Diseases

“…Children with ARPKD have much worse overall prognosis than children with ADPKD [43]. The perinatal and neonatal mortality reaches 30 -50% and children who survived the neonatal period (neonatal survivors) have substantial renal, cardiovascular and hepatic morbidity.…”