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.

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.

Diagnostic significance of flow separation in the carotid bulb.

Pulsatile blood flow within the normal carotid sinus involves at least two distinct components. That near the flow divider is laminar and antegrade, whereas a boundary layer separation zone in the posterolateral aspect exhibits transient blood flow reversal. It is now possible to document these flow velocity components using pulsed Doppler ultrasound methods. When atherosclerosis develops, it preferentially involves the posterolateral bulb region, obliterating the normal configuration of the sinus with consequent loss of the flow separation zone. It was therefore hypothesized that if flow separation could be detected, it should be predictive of a normal angiogram. To assess this, we evaluated 20 symptomatic patients and two with only bruits found by duplex scanning to have flow separation in either one or both carotid bulbs and who also underwent cerebral angiography. Initial diagnoses were stroke in seven, reversible ischemic neurologic deficit in one, transient ischemic attack in 12, and bruit in two. Flow separation was bilateral in 13 patients (59%). There were 15 patients with symptoms in the territory of a carotid bulb exhibiting flow separation. By angiography, of the 35 bulbs with boundary layer separation, 27 (77%) were normal, with the remainder showing lesions that reduced the diameter of the vessel by 20% or less. Final diagnoses of the 15 patients with symptoms ipsilateral to a carotid sinus exhibiting flow separation were fibromuscular disease in two, lacunar stroke in three, dissection in two, subclavian steal in one, cardiogenic embolus in three, migraine in one, hyperventilation syndrome in one, kink of the mid-internal carotid artery in one, and no diagnosis in one.(ABSTRACT TRUNCATED AT 250 WORDS)

Evaluation of traumatic mesenteric hemorrhage in a hemophiliac with Tc-99m labeled red blood cell scintigraphy.

A hemophiliac with a self-inflicted abdominal stab wound was evaluated with computerized tomography, ultrasound, and technetium-99m labeled red blood cell (Tc-99m RBC) imaging. A large intra-abdominal hematoma was best defined by CT and ultrasound; however, continued bleeding, indicating the need for emergency surgery, could only be demonstrated by radiolabeled red blood cell scintigraphy.

Infection stones in patients with myelomeningocele and ileal conduit urinary tract diversion.

Infection renal calculi are serious complications of urinary tract diversion in patients with myelomeningocele. During a 12-month period, 10 renal units containing calculi were managed surgically. The kidneys were in patients with multiple previous operations and medical problems. Nine of the ten stones had a staghorn configuration, filling the renal pelvis with calyceal extensions. Nephrectomy was necessary for a nonfunctional kidney and a conventional nephrolithotomy was done in one case. Endourologic techniques were used for treatment of eight renal units. Endourologic methods depended on placement of a percutaneous nephrostomy tube. The nephrostomy tract was dilated, then renal calculi were disintegrated under direct vision using ultrasound, and the stone fragments were removed. Six of eight kidneys (75%) were rendered stone-free using these methods. The other two kidneys had residual stone fragments located in isolated calyces with little potential for obstruction. Skin breakdown occurred in two patients, and two patients required transfusions. These results compared favorably with the results of conventional open surgery. Major advantages of percutaneous nephrolithotomy were evident during the postoperative period. Since there was minimal incision discomfort, patients were easily mobilized and there were no pulmonary problems. Patients were able to resume oral intake on the day of surgery and usually resumed full activities within one week of discharge. Percutaneous methods are a valuable aspect of a total therapeutic program for infection renal calculi in patients with myelomeningocele.

Femoral head viability following hip fracture. Prognostic role of radionuclide bone imaging.

A retrospective study was made of all radionuclide (RN) bone images performed at our institution over a two-year period to evaluate femoral head viability after nonpathologic fracture of the femoral neck. Twelve patients had avascular femoral heads during the perioperative period, of which nine had adequate follow-up. Seven of these nine patients had follow-up bone images. Revascularization occurred in four patients, while three had persistent absence of femoral head uptake. With clinical follow-up ranging from four to 29 months (median: 14 months), only two of these nine patients developed clinical or radiographic evidence of osteonecrosis. RN bone imaging performed in the perioperative period does not reliably predict the development of post-traumatic osteonecrosis of the femoral head and, at present, should not be used to determine prospectively method of treatment of femoral neck fracture.

Effect of percutaneous nephrostolithotomy on renal function.

In 15 patients with 17 stone-containing renal units renal function studies were performed before and 2 to 3 months after percutaneous nephrostolithotomy. The creatinine clearance of the operated renal units was calculated from the total creatinine clearance and differential renal function was obtained with radionuclides. Changes in the cortical images of the operated kidney also could be determined from the radionuclide scans. There was no significant change in the creatinine clearances when all of the operated kidneys were considered. However, there was significant improvement in the function of 12 units containing infectious stones in which preoperative function was reduced. Percutaneous nephrostolithotomy preserves or improves renal function and can be used for all types of renal stones.

Heterotopic bone formation: clinical, laboratory, and imaging correlation.

The clinical findings, laboratory data, radiographs, and radionuclide studies of 50 patients referred for evaluation of possible heterotopic bone formation (HBF) were reviewed. HBF begins approximately 17 days following injury or neurologic insult, heralded by an acute rise in serum alkaline phosphatase (SAP), and increased vascularity on three-phase radionuclide bone imaging (RNBI). RNBI soft-tissue uptake is evident at 24 days and radiographic calcification is visible 1 wk later. Clinical signs and symptoms occur relatively late in the course of disease. HBF mimics thrombophlebitis and should be considered in all patients referred for venography if the clinical situation is appropriate. Serial SAP measurements and three-phase RNBI should allow early diagnosis in virtually all cases.

Current treatment of infection stones in high risk patients.

During a 12-month interval we removed struvite calculi from 20 kidneys in high risk patients, including 10 kidneys with branched stones. Endourological methods were used for primary treatment of 16 renal units and 12 (75 per cent) are free of stones. Endoscopic removal of residual stone fragments also was successful in 2 of 3 patients following a conventional open operation. The remaining stone fragments were located in isolated calices. Endourology presently is an integral component of a total therapeutic program for management of complicated patients with struvite calculi.

Should single-phase radionuclide bone imaging be used in suspected osteomyelitis?

The records of 69 patients who had 86 delayed, static radionuclide bone images for suspected osteomyelitis were studied to determine the effects of this procedure on diagnosis and treatment. Sensitivity, specificity, and positive predictive value were lower than reported in several other studies. When osteomyelitis was unlikely, imaging was either negative or falsely positive and rarely affected treatment. In 46 cases where osteomyelitis was more likely, imaging potentially changed therapy in 19 but was unhelpful or misleading in 15. One third of the interpretations were "equivocal" and these were incorrect four times more often than "definite" readings. Two false-positive images led to unnecessary surgeries, and one patient with negative images died with unrecognized osteomyelitis. Static-phase images with "definite" interpretations, particularly when negative, are specific, but "equivocal" studies may lead to diagnostic and therapeutic errors. When osteomyelitis is improbable, imaging rarely changes diagnosis or therapy.

Heterotopic bone formation (myositis ossificans) and lower-extremity swelling mimicking deep-venous disease.

A quadriplegic patient with a swollen leg was suspected of having deep-venous thrombosis, and was studied with radionuclide venography (RNV) and contrast venography. Focal narrowing of the femoral vein, seen on RNV, was due to extrinsic compression. Although soft-tissue radiographs were normal, Tc-99m diphosphonate imaging established the diagnosis of early heterotopic bone formation (myositis ossificans), which was responsible for the venous compression. Clinically this inflammatory process can mimic deep-venous thrombosis, and should be considered in evaluating patients at risk for both heterotopic bone formation and deep-venous thrombosis.

Tumor microembolism: pulmonary perfusion pattern.

Three patients had radionuclide lung perfusion images that we believe to be typical of tumor microembolism. Autopsy confirmation was available in two of these cases. A brief review of pulmonary tumor microembolism is included.

The need for routine delayed radionuclide hepatobiliary imaging in patients with intercurrent disease.

A retrospective review was made of all radionuclide hepatobiliary studies performed in a major trauma center over a 27-month period and correlated with the patients' clinical course. In a population of 42 patients (27 of whom were on total parenteral nutrition [TPN]) who had severe intercurrent illness (primarily trauma), and an additional 18 patients who had hepatocellular dysfunction, hepatobiliary imaging confirmed a patent cystic duct in 43 of 60 patients (72%). Fourteen of these 43 patients (33%) had gallbladder visualization at later than one hour after radiotracer administration, and seven of these 14 required imaging from four to 24 hours. Of 17 patients who had nonvisualization of the gallbladder, four had surgically proved acute cholecystitis. Images of nine of the remaining 13 patients with gallbladder nonvisualization were not obtained for 24 hours. The presence of gallstones, wall thickening, or sludge on sonograms did not correlate with cystic duct patency, and was not specific for acute cholecystitis. Though gallbladder function is compromised in the population with severe intercurrent disease, radionuclide hepatobiliary imaging is still valuable; it can confirm a patent cystic duct in at least 72% of patients if routine imaging is continued for up to 24 hours.

Diagnosis of right hemidiaphragmatic rupture by liver scintigraphy.

We report two cases of traumatic rupture of the right hemidiaphragm with liver herniation following blunt abdominal trauma. In both, the diagnosis was not immediately suspected, and liver scintigraphy was later diagnostic. Focal elevation of the central portion of the right lobe of the liver was present in both cases. In one case the herniated liver was surrounded by a band-like photon-deficient collar. Liver scintigraphy can be quickly performed by portable technique and may allow for early diagnosis.

Low sensitivity of sonography and cholescintigraphy in acalculous cholecystitis.

Acalculous cholecystitis is difficult to diagnose by clinical means or contrast radiography. Because sonography and cholescintigraphy have both been shown to do well in the diagnosis of calculous cholecystitis, the sensitivity of these newer imaging methods was assessed retrospectively in 33 proven cases of acalculous cholecystitis. The sensitivities to acalculous cholecystitis for sonography (67%) and for cholescintigraphy (68%) were not as high as has been reported for these tests in calculous cholecystitis. Reasons for the lower sensitivity with each test and the pathogenesis of acalculous cholecystitis are discussed.

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.

In- 111-labeled leukocyte imaging: false-positive study due to acute gastrointestinal bleeding.

A case is reported in which In- 111-labeled leukocytes accumulated in the left colon on a 24-hr delayed image. This was found to be secondary to an upper gastrointestinal bleed in progress at the time of injection of the radiolabeled leukocytes.