Takayasu's arteritis associated with intrarenal vessel involvement.

Takayasu's arteritis (TA) is an inflammatory process frequently associated with stenosis and obliteration of the aorta and its primary branches. Renal manifestations of the disease include renal artery stenosis, hypertension, and ischemic kidney disease. To our knowledge, vasculitis involving intrarenal arteries has not been reported in association with TA. We report a case with clinical and arteriographic features of TA associated with involvement of intrarenal vessels.

Intrafamilial phenotypic expression of autosomal dominant polycystic kidney disease.

It has been suggested that the clinical expression of autosomal dominant polycystic kidney disease (ADPKD) is uniform among individuals of a given family. To test this hypothesis, intrafamilial variations in ages at onset of first symptoms, types of first symptoms, serum creatinine concentrations, and renal sizes were evaluated in 131 patients with ADPKD from 36 unrelated families. These parameters were compared in younger and older affected relatives in the same family at a single time, due to difficulties of following them longitudinally. Because the natural course of the disease is to progress with age, it was presumed that disease progression in a given family was nonuniform if older individuals had lower serum creatinine concentrations, and/or smaller kidneys than their affected younger relatives, or if relatives of similar ages had different serum creatinine concentrations and/or kidney sizes. Nonuniform progression was suggested in 38% of affected relatives by serum creatinine concentrations and in 53% by kidney sizes. Ages at onset of first symptoms and types of first symptoms were also different in patients from the same families. These data indicate that phenotypic expression of ADPKD may differ considerably among patients who belong to the same families.

Renal cystic disease associated with orofaciodigital syndrome.

Three families affected by the rare genetic disorder orofaciodigital syndrome, type I (OFD-1) were screened by computed tomography (CT) to determine the presence of cysts in the kidneys and liver, an association known to occur but not previously described in the radiologic literature. Renal cystic changes in four females with oral, facial, and digital malformations were variable and not distinguishable from other inherited cystic kidney diseases. One patient had biliary ectasia and hepatic cysts. "Polycystic" kidneys occurring only in female members of a family should suggest OFD-1, an X-linked dominant disorder that is lethal in utero in males. Patients known to have the syndrome should be screened for cystic renal disease.

Variability of expression of the orofaciodigital syndrome type I in black females: six cases.

Orofaciodigital syndrome type I (OFD I) includes striking orodental, facial, digital, renal, and central nervous system (CNS) abnormalities. Frequently associated with mental retardation, OFD I is inherited as an X-linked dominant trait, lethal in males. Here, we report the variable expressivity of OFD I in 6 black U.S. females and review findings in 2 previously reported black patients. Only these 8 of over 160 reported cases involve blacks. Abnormalities observed in black patients are similar to those observed in whites, but with specific differences. Only 25% of the blacks had cleft palate and none was observed with midline cleft of the upper lip. Among whites, 80% have cleft palate and 45% midline cleft of the upper lip. These findings suggest that racial genetic factors may protect lip and palate development in blacks, even in the presence of the OFD I gene. CNS abnormalities, including agenesis of the corpus callosum, hydrocephaly, cystic brain lesions, seizures, and mental retardation, were present in 50% of our the cases. This figure is greater than previously reported. Polycystic kidneys were present in 3 of our patients. Including a previously reported patient, 50% of the black OFD I patients show polycystic kidneys. Hyperplastic and supernumerary frenula, with or without brachydactyly, have been shown to be strong diagnostic criteria in our patients. New findings reported here include intracranial berry aneurysm, periodontal disease, and lip pits. Clinicians treating these patients should be aware of the pleiotropic manifestations of the syndrome, which may include renal and CNS anomalies. Ultrasonic and computed tomography scan studies are indicated in patients diagnosed with OFD I.

Clinical manifestations of autosomal dominant polycystic kidney disease in patients older than 50 years.

The purpose of this study was to define manifestations of autosomal dominant polycystic kidney disease (ADPKD) in older patients with the disease. Fifty-seven subjects age 50 years or more, who were at risk for having inherited the gene for ADPKD, were evaluated for renal size, hypertension, back and abdominal pain, symptoms consistent with urinary tract infection (UTI), hematuria, end-stage renal failure, and liver cysts. The diagnosis of ADPKD was made in 32 of the 57 at-risk subjects (56%). At the time of study, only one patient with the disease was asymptomatic and normotensive and denied any previous symptoms suggestive of the disease. Clinical manifestations of ADPKD in the 31 symptomatic patients were hypertension (69%), a history of back and abdominal pain (47%), symptoms consistent with UTI (41%), hematuria (31%), and end-stage renal failure (47%). Liver cysts were found in 44% of patients. No statistically significant differences in the frequency of any manifestations of ADPKD between men and women were found, although the frequency of symptoms consistent with UTI tended to be higher in women (53%) than in men (27%). Most patients developed symptoms after the age of 40 years. Notably, 31% of the older patients with ADPKD had normal serum creatinine levels. Thus, older subjects with kidney cysts who are at risk to have inherited the gene for ADPKD, should be considered to have the disease even in the presence of well-preserved kidney function. This observation may play an important role in assessing the prognosis of older subjects at risk who have bilateral renal cysts and in genetic counseling of their relatives.

Radiation-induced renovascular hypertension successfully treated with transluminal angioplasty: case report.

Severe hypertension and stenosis of the right renal artery developed in a 21 year old male, 14 years after completion of inverted Y radiation (4000 rads) for abdominal Hodgkin's disease. Transluminal angioplasty resulted in improvement of the right kidney function, and normalization of the blood pressure for one year. Subsequently, the patient required only minimum medical therapy for blood pressure control. Transluminal angioplasty may be effective immediately in the treatment of radiation induced renal artery stenosis, although long term success remains uncertain.

Massive growth of kidneys in patients with autosomal dominant polycystic kidney disease treated with chronic hemodialysis.

Three patients with autosomal dominant polycystic kidney disease in whom kidneys enlarged enormously during treatment with chronic hemodialysis for terminal uremia are reported. In all cases, nephrectomies were performed for the relief of symptoms caused by the large kidneys.

Autosomal dominant polycystic kidney disease with liver and pancreatic involvement in early childhood.

In a patient with autosomal dominant polycystic kidney disease, liver and kidney cysts were found by biopsy at the age of 8 months. Computed tomography at the age of 16 years confirmed the presence of liver and kidney cysts and also revealed pancreatic cysts. Such early onset of liver cysts in a patient with autosomal dominant polycystic kidney disease has not been reported previously.

Autosomal dominant polycystic kidney disease: symptoms and clinical findings.

In 259 subjects at risk to have inherited autosomal dominant polycystic kidney disease (PKD), the frequency of symptoms consistent with urinary tract infection, haematuria, back and abdominal pain, hypertension, renal stones, and end-stage renal failure was evaluated. The diagnosis of PKD was made in 140 of these subjects (54 per cent). At the time of the study, 36 per cent of males and 7 per cent of females with PKD were asymptomatic, normotensive, and denied any previous problems. In patients younger than 30 years, 66 per cent of males but only 11 per cent of females were asymptomatic. In female patients, urinary tract infection (69 per cent) and hypertension (61 per cent) were the most frequent clinical manifestations. In contrast, in males with PKD, these problems were present in only 19 per cent and 42 per cent, respectively. Frequency of other clinical manifestations was similar in women and men with PKD. End-stage renal failure was present in 5 per cent of the 81 patients younger than age of 40, in 33 per cent of the 27 patients 40-49 years old, and in 47 per cent of the 32 patients aged 50 years or more. Physical examination was unreliable in estimating kidney size in most patients, particularly in early stages of the disease. Hypertension and symptoms such as haematuria and back pain, but not urinary tract infections, correlated well with renal size measured by radiograms.

Silicon nephropathy mimicking Fabry's disease.

Percutaneous renal biopsy was performed in a surface coal miner with radiographic and histopathologic pulmonary changes consistent with acute silicolipoproteinosis who developed proteinuria and hematuria. Electron microscopic evaluation of the renal tissue specimen revealed a diffusely thickened glomerular basement membrane, foot process effacement, and dense lamellar inclusions in swollen glomerular epithelial cells, similar to those seen in Fabry's disease. However, normal levels of plasma alpha-galactosidase A, normal urinary sediment glycosphingolipids and the absence of the clinical characteristics of Fabry's disease excluded this diagnosis. This case illustrates that electron-dense lamellar inclusions, similar to those seen in Fabry's disease, may be seen in other entities such as nephropathy associated with silicosis.

Fertility and pregnancy complications in women with autosomal dominant polycystic kidney disease.

Fertility and pregnancy complications were assessed in 137 women at risk of having inherited the gene for autosomal dominant polycystic kidney disease. Seventy-six (55%) of these subjects were found to have polycystic kidney disease (multiple renal cysts). The remaining 61 women served as controls. The prevalence of fertility, spontaneous abortion, stillbirth, and symptoms consistent with urinary tract infection were not different in the two groups. However, the frequency of hypertension first diagnosed during pregnancy (with or without preeclampsia or eclampsia) and the frequency of pregnancy-unrelated hypertension were higher in women with polycystic kidney disease. No evidence was found that pregnancy had an adverse effect on the natural course of polycystic kidney disease. The incidence of renal failure was not higher in women with polycystic kidney disease who had three or more pregnancies than in women of similar ages who had two, one, or no pregnancies.

Potential causes and pathogenesis in autosomal dominant polycystic kidney disease.

To evaluate early pathological changes in autosomal dominant polycystic kidney disease (PKD), percutaneous renal biopsy specimens from 14 subjects at risk for PKD were analyzed. The subjects represented 5 unrelated families, ranged in age from 11 to 26 years and had normal excretory urograms. One additional renal tissue specimen was obtained at the time of nephrectomy from a patient with PKD and end-stage renal failure. In renal biopsy specimens from 5 subjects, light microscopy findings of dilated distal and collecting tubules suggested early manifestation of PKD. In 3 of these 5 subjects, PKD was documented 3 years later by repeated excretory urography. Polypoid and papillary hyperplasia of tubular epithelium was not seen in biopsy specimens but was present in the nephrectomy specimen. Electron microscopy revealed splitting of the lamina densa of the glomerular capillary basement in the nephrectomy specimen and in two biopsy specimens with light microscopic changes of tubular dilatation, from subjects with PKD documented 3 years later. In three biopsy specimens without light microscopic changes of tubular dilatation from subjects without PKD documented 3 years later and in the nephrectomy specimen, multilayering of the tubular basement membrane was seen on electron microscopy. These data indicate that structural abnormalities of the basement membranes may be the primary cause in cyst formation in autosomal dominant PKD. Evidence of tubular obstruction was not present.

Hemolytic uremic syndrome and metastatic malignancy.

We report a case of hemolytic uremic syndrome (HUS) with advanced renal failure and metastatic adenocarcinoma of the prostate. The HUS rapidly improved after treatment with blood transfusions, Plasmanate infusions, aspirin and dipyridamole, and hemodialysis for uremia. No cancer chemotherapy was given. This case illustrates that, in adults, HUS may have an excellent prognosis even with advanced renal failure, and that the presence of metastatic cancer does not necessarily imply a relationship between the two diseases.

Autosomal dominant polycystic kidney disease: early diagnosis and data for genetic counselling.

Because of the onset of symptoms in patients with autosomal dominant polycystic kidney disease is generally delayed until adulthood, genetic counseling is imprecise. In an attempt to identify patients early, 261 offspring of subjects with the gene for polycystic disease were tested. Agreement between the results of excretory urography with nephrotomography and radionuclide imaging was excellent. In the 15-19 year age group, polycystic kidney disease was diagnosed in only 30% of 33 subjects at risk, whereas the expected figure was 50%. The disease was diagnosed in 57% of 228 subjects at risk who were aged over 19. When the probands were excluded, this figure was 43% and did not differ significantly from the expected 50%. These data suggest that persons at risk aged over 19 years who have normal urograms and radionuclide images have less than a 5% chance of having inherited the gene for polycystic kidney disease.

Acute massive unilateral hydrothorax: a rare complication of chronic peritoneal dialysis.

We have described a case of massive unilateral hydrothorax during chronic peritoneal dialysis. The communication between the peritoneal and right pleural cavities was confirmed by injection into the peritoneal cavity of methylene blue, which promptly appeared in the pleural cavities. Peritoneal dialysis was continued, using decreased dialysate and a semisitting position. The possibility of continuing peritoneal dialysis in the patient with acute hydrothorax and in whom hemodialysis may be contraindicated is demonstrated.

Liver cysts in patients with autosomal dominant polycystic kidney disease.

Liver cysts were found in 46 (29 per cent) of 158 patients over 10 years of age with documented autosomal dominant-type polycystic kidney disease (PKD) from 62 unrelated families. Hepatic cysts were not found in any patient at risk for PKD in whom renal cysts were not detected. The prevalence of liver cysts increased with advancing age and with declining rate of glomerular filtration. Results of clinical and laboratory studies indicate that polycystic liver disease in patients with autosomal dominant-type PKD is a benign condition, rarely, if ever, causing impaired liver function or portal hypertension.

H-reflex latency in uremic neuropathy: correlation with NCV and clinical findings.

Sixty-two uremic patients on dialysis of varying durations were tested bilaterally for posterior tibial nerve H-reflex latency, at 3-month intervals. Bilateral nerve conduction velocities (NCVs) of the peroneal, tibial, and sural nerves were concomitantly determined in all subjects. Proprioception sense, vibration perception threshold at the great toes, and deep tendon reflexes at the knee and ankle were determined in all subjects on the day of electrodiagnostic testing. The sensitivity of the H-reflex latency in detection of the onset and severity of uremic neuropathy was assessed. H-reflex latency changes were compared to NCV and clinical test results. The following was found: (1) of the parameters studied, the H-reflex latency appeared to be the most sensitive indicator of early uremic polyneuropathies, (2) electrodiagnostic tests were more sensitive to the onset of neuropathies than the clinical testing parameters studied, and (3) the sural sensory nerve appeared to be involved earlier than peroneal and tibial motor nerves in neuropathies studied.

Effect of residual renal function on minimum dialysis requirements.

In two groups of haemodialysis patients, the effect of residual renal function (RRF) on motor nerve conduction velocity (MNCV) was prospectively studied. Patients belonging to Group I had stable GFR of greater than 1 ml/min while Group II patients had gradually declining GFR. As a result, the dialysis index for middle molecules, DI(MM), remained above 1.0 in Group I despite dialysis schedules as short as 6 hr/wk. DI(MM) in Group II fell gradually below 1.0 as renal function deteriorated on equally short dialysis schedules. None of the five patients in Group I developed neuropathy during 1.2-4.1 years of reduced dialysis. However, all four patients belonging to Group II developed significant (p less than .01) slowing of MNCV when their GFR declined below 0.5 ml/min. Neuropathy in this group was arrested or reversed by increasing DI(MM). It is, therefore, proposed that residual renal function is a major determinant of dialysis requirements.