Adult-type Polycystic Kidney Disease Research Articles

Thyroid-like follicular carcinoma of the kidney in a patient with nephrolithiasis and polycystic kidney disease: a case report

Thyroid-like follicular carcinoma of the kidney (TLFC), a rare neoplasm with low malignant potential, is histologically similar to primary thyroid follicular carcinoma, but characteristically lacks thyroid immunohistochemical markers. We report a case of 34-year old patient with nephrolithiasis. Ultrasound revealed hepatorenal cysts consistent with adult type polycystic kidney disease (ATPKD) and a cytologically confirmed left kidney tumor. Nephrectomy specimen contained sharply demarcated lesion of unusual morphology. Tubular and cystic structures lined by mostly cuboidal cells and filled with amorphous eosinophillic material, reminiscent of follicular carcinoma of the thyroid gland, were diagnostic for TLFC. Thyroid markers were negative. To our knowledge this is the first report of TFLC associated to ATPKD. Brief review of previously published TFLCs, possible relationship between entities and differential diagnosis are discussed.Virtual slidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/8067946569612694

The Role of Ultrasound in Renal Insufficiency

Sonography is the best screening modality to evaluate patients presenting with renal insufficiency. Ultrasound findings can be normal in patients with renal disease, especially in prerenal azotemia and acute parenchymal renal disease. Echogenic kidneys indicate the presence of parenchymal renal disease; the kidneys may be of a normal size or enlarged. Small kidneys suggest advanced stage chronic kidney disease. Uncommonly, cystic disease of the kidney, especially adult type polycystic kidney disease may be the cause of the patient's renal insufficiency with bilaterally enlarged kidneys containing multiple cysts of various sizes. If hydronephrosis is present, the level and cause of the obstruction should be sought. When ultrasound cannot diagnose the level and cause of obstruction, other imaging modalities, including CT and MRI may be useful. When renovascular disease (arterial stenosis or venous thrombosis) is suspected, spectral and color Doppler can be useful in detecting abnormalities.

Blood Fibrinolysis and the Response to Desmopressin in Glomerulonephritis

Fibrinolytic parameters and von Willebrand factor (VWF) antigen were measured in 22 patients with glomerulonephritis (GN) who underwent renal biopsy after desmopressin (DDAVP) infusion. Blood was collected immediately before and after DDAVP infusion, after one week, and 3-6 months later. The main abnormalities on admission were the following: the mean baseline levels of t-PA antigen and VWF were significantly higher in GN patients than in 22 healthy controls; the median t-PA activity and the mean scu-PA level were significantly lower than normal. The t-PA response to DDAVP was impaired in 7 patients (32%), the response of VWF in 9 patients (41%), and the u-PA:Ag response in 11 patients (50%). When the patients were stratified according to creatinine clearance rate, significant differences between the subgroups with severely and moderately impaired renal function were noted: the baseline levels of PAI activity and VWF were higher in patients with severe renal failure and the VWF response to DDAVP was significantly lower. The response of u-PA (not of t-PA or VWF) to DDAVP appeared to correlate with urine flow during the first 24 h, suggesting the dependence of u-PA release on intact nephrons. A series of 18 patients with adult-type polycystic kidney disease (APKD) with creatinine clearance rates in the same abnormal range as the GN patients, had lower mean PAI and a significantly higher mean scu-PA level.(ABSTRACT TRUNCATED AT 250 WORDS)

2つのマウス多発性嚢胞腎症遺伝子, <I>pcy</I>と<I>cpk</I>, のリンケージ試験

Two murine models of polycystic kidney disease (PKD) in humans are currently available: the infant-type cpk in mice and the adult-type pcy mutation in mice. Our linkage analysis was to determine whether these genes are allelic forms of the same gene, or infant-type and adult-type PKD resulting from homozygous and heterozygous mutation, as in the rat Cy gene. We found that the pcy gene in the mice was linked with the d gene on chromosome 9, but the cpk gene was not. A segregation test indicated that the two genes are inherited independently. This indicates that the cpk and pcy genes are not alleles and that the genetic mechanism of PKD pathogenesis in the mouse is different from that in the Cy rat.

Investigation of factors affecting the progression of polycystic kidney disease and effects of percutaneous reduction of cystic size

Factors affecting the progression of autosomal dominant adult type polycystic kidney disease were analysed in 27 cases. The patients ages ranged from 10 to 74 (mean 44) years old and the serum creatinine values were within the normal limits except two cases, in which the values were 2.4 mg/dl and 2.1. They were followed for from 2 years to 12 years (mean 5.6 years). During the followup period, 6 cases showed elevation of the serum creatinine values and hemodialysis was necessary in 4 cases. There was a tendency of higher morbidity rate of hypertension, proteinuria, hematuria and pyuria in the cases with decreased renal function. These factors may have participated in the progression of polycystic kidney disease. Cystic fluid analysis was performed by percutaneous puncture of more than hundred cysts in 27 cases. The results showed that the cystic fluid components of most cysts of the well functioning kidneys were similar to those of serum values: so-called proximal cysts. On the other hand, in the cases with decreased renal function, there were many cysts with lower sodium concentration and higher creatinine values: so-called distal cysts. The results suggest that the existence of so-called distal cysts may indicate poorer prognosis. DMSA renoscintigraphy was useful for followup polycystic kidney patients because of the uptake of the radionuclide was decreased before rising the serum creatinine value. In 6 cases, the cysts were instilled with 95% ethanol. Followup ultrasonography and DMSA renoscintigraphy revealed a marked reduction of the cystic size and an improvement of DMSA uptake.(ABSTRACT TRUNCATED AT 250 WORDS)

A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Hitherto, mutations that lead to autosomal dominant adult-type polycystic kidney disease have been found to be linked to the alpha-globin genes on the short arm of chromosome 16. In an Italian family, absence of linkage between the disease mutation and alpha-globin indicates that the condition can be caused by mutations in a second gene. The clinical features of the disease in this Italian family are indistinguishable from those found in the "linked" families. The finding that there are two polycystic kidney disease genes means that linkage must be demonstrated independently in each family before predictive tests with DNA probes can be used reliably.

Unilateral presentation of adult-type polycystic kidney disease in children: P. Porch, H.N. Noe, and F.B. Stapleton. J Urol 135:744–746, (April), 1986

Unilateral presentation of adult-type polycystic kidney disease in children: P. Porch, H.N. Noe, and F.B. Stapleton. J Urol 135:744–746, (April), 1986

Unilateral Presentation of Adult-Type Polycystic Kidney Disease in Children

Adult polycystic kidney disease is characterized by autosomal dominant inheritance, diffuse bilateral cystic kidney disease and onset during the young adult years. Relatively few cases of adult-type polycystic kidney disease in children have been reported. We describe a 4-year-old girl who appeared to have multiple, unilateral simple renal cysts by excretory urography and ultrasonography. There was no known familial renal cystic disease. When renal histology was consistent with adult-type polycystic kidney disease, screening nephrosonograms revealed that the mother also had the disease. We review 10 published cases of unilateral presentation of adult-type polycystic kidney disease in children. This report emphasizes the necessity of screening studies in parents of children with diffuse unilateral or bilateral cystic renal disease. Awareness of the unexpected unilateral presentation of adult-type polycystic kidney disease in children may allow a nonoperative diagnosis to be made.

Angiographic patterns of involvement in renal and perirenal lymphoma.

Ten patients with renal lymphoma studied by selective angiography are reported. Seven patients had unilateral and 3 had bilateral involvement. A localized mass was seen in 6 patients and diffuse infiltration in 3. In 1 patient with bilateral nodular involvement, the angiographic findings resembled those of adult-type polycystic kidney disease. In all cases, renal lymphoma was suspected angiographically. The findings included hypovascular mass or masses with fine neovascularity, smooth and diffuse arterial encasement, and faint tumor staining.

Congenital Hepatic Fibrosis and Asymptomatic Familial Adult-Type Polycystic Kidney Disease in a 19-Year-Old Woman

Congenital hepatic fibrosis has been associated with a variety of renal malformations, but rarely adult-type polycystic kidneys. The case of a 19-yr-old woman with congenital hepatic fibrosis associated with asymptomatic familial adult-type (autosomal dominant) polycystic kidney disease is described. A literature review revealed seven other reports of this association. Our patient differs because the association between congenital hepatic fibrosis and adult-type polycystic kidney disease is clear, and because her asymptomatic kidney disease accords with the later onset of symptomatic polycystic kidney disease in her family.

Cystic Kidneys in a Patient With Oral-Facial-Digital Syndrome Type I

A cystic renal lesion is described in a girl with oral-facial-digital syndrome, type I. Excretory urography was normal at 1 yr of age; however, flank masses, hypertension, and renal failure were discovered at 11 yr of age. Bilateral nephrectomies were performed prior to renal transplantation. The renal cortex was replaced by large cysts. The cysts were lined by flattened nondescript epithelium and many contained glomerular tufts. Twenty renal cysts were aspirated, and the cyst fluid analyzed for sodium, potassium, creatinine, and osmolality. The concentration of solutes in the cyst fluid was comparable to plasma values. The pathologic features and pattern of cyst solute concentration appear to distinguish the cystic renal lesion in oral-facial-digital syndrome from the more common adult-type polycystic kidney disease.

The cystic renal lesion in tuberous sclerosis

A characteristic cystic renal lesion is described in three infants with tuberous sclerosis. Large cystic kidneys were present at birth in one child. The other two patients were discovered to have cystic kidneys and hypertension at 3 months of age. Development delay and seizures were ultimately present in two infants; typical cutaneous lesions of tuberous sclerosis developed in only one child. The roentgenographic appearance of the kidneys in the two older children was similar to that of adult-type polycystic kidney disease. Cysts were lined by a distinctive, hyperplastic epithelium in each patient. The diagnosis of tuberous sclerosis may be determined by renal biopsy in infants presenting with cystic kidneys.

The Management of Polycystic Kidney Disease with Special Reference to Dialysis and Transplantation

The records of 65 patients with adult type polycystic kidney disease were examined in an attempt to identify the problems and priorities in the management of these patients, with particular reference to ultimate haemodialysis or transplantation. The three main problems of patients presenting before the onset of terminal renal failure were hypertension (72 per cent), pain (36 per cent) and urinary tract infection (32 per cent). Less common complications included haematuria, splenomegaly, gastro-intestinal disturbances and disorders of calcium metabolism. The polycystic kidney patient who is considered for renal transplantation poses questions of the desirability and timing of bilateral nephrectomy, vagotomy and splenectomy. Eight patients died without receiving a transplant, five of them from uraemia. Thirty-one patients received 36 kidney transplants and 46 per cent of these were functioning one year after transplantation. Thirteen patients who had received transplants died. Analysis of the causes of death suggests that in nearly half, major contributing factors might have been anticipated and we therefore feel that regular surveillance from the time of diagnosis is essential for patients with polycystic kidney disease.

Autosomal dominant polycystic renal disease in children

ADULT-TYPE POLYCYSTIC KIDNEY DISEASE is inherited as an autosomal dominant trait and usually presents after the age of 30? Liver involvement by large cysts may occasionally cause portal hypertension.: By contrast, infantile polycystic renal disease is almost always diagnosed in infancy or early childhood and is inherited by an autosomal recessive mode. :~ Portal dysplasia, which may lead to hepatic fibrosis, can be demonstrated in the majority of patients with infantile polycystic renal disease; when present, its severity appears to have a direct relationship to the age of the child.:' Differentiation between these two forms of polycystic renal disease is important for prognosis and genetic counselling. If they segregated discretely in terms of the age of presentation, an accurate diagnosis could be made on this basis. It has become apparent, however, that adulttype polycystic kidney disease may present in infancy, :'~ and the renal manifestations of infantile polycystic renal disease may only become obvious in older children?:' There are few reports documenting adult-type polycystic renal disease with onset in childhood. This has led to an erroneous conclusion that the condition rarely presents in children. This report describes the clinical and radiologic features of eight children in six kindreds with onset of the adult-type in the first decade of life. The terms infantile and adult polycystic renal disease could be discarded in favor of autosomal recessive and autosomal dominant polycystic renal disease.

Infantile presentation of adult-type polycystic kidney disease in a large kindred

Case L Patient J. H., a premature Caucasian female infant, was delivered at 32 weeks' gestation by Cesarean section. The infant's initial Apgar rating was 2 and vigorous resuscitative efforts were begun. Shortly after birth the infant developed respiratory distress; roentgenograms of the chest were typical of hyaline membrane disease. No flank masses were palpable, and there was no evidence of renal dysfunction. The infant's hospital course was later complicated by the development of hydrocephalus, staphylococcal ventriculitis, and septicemia. The infant died at 38 days of age. At autopsy the infant weighed 2,070 gm. Body measurements were as follows: crown-rump length 30 cm, rump-heel length 19 cm, and head circumference 33 cm. Examination of the cranial contents was not permitted. The thoracic and abdominal organs, with the exception of the lungs and kidneys, were grossly and microscopically normal. No evidence of fibrosis or cystic change was present in the liver. Interstitial fibrosis and organizing hyaline membranes were present in the lungs, but there was no cyst formation or hypoplasia. The combined weight of the kidneys was 30 gin; they were bilaterally symmetric and of normal contour (Fig. 1). Over the surfaces of both kidneys were numerous small cysts that varied in

Letter: Gout and polycystic disease of the kidney.

Comments1 March 1974Gout and Polycystic Disease of KidneyJULIO V. RIVERA, M.D.JULIO V. RIVERA, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-80-3-427_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: I read with interest Dr. Newcombe's letter (1), in which he suggests a relation, probably genetic, between gout and adult-type polycystic kidney disease. Virchow (2), in 1856, first suggested that uric acid and lime infarcts in the renal medullae were the cause of obstruction, which led to the formation of renal cysts. Although this theory is no longer tenable, it pointed to a relation between uric acid and polycystic disease. In 1965 we studied a family group in which these two conditions were associated in a way that suggested a genetic linkage (3). Six of 10 other...