Leon A. Phillips

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.

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.

The normal 99mTc-DMSA renal image.

Renal images of 194 normal subjects given 99mTc-dimer captosuccinic acid (DMSA) were reviewed to establish normal values an optimal imaging techniques for this new renal agent. Images were consistently of high quality. Normal renal size (posterior length) averaged 11.5 +/- 1 cm, and renal radioactivity (functioning tubular mass) was equally divided between the left and right kidney. 99mTc-DMSA appears to be an excellent renal parenchymal imaging agent.

Comparative evaluation of the effect of a high yield criteria list upon skull radiography.

Based on results of studies using high yield criteria to determine the need for skull radiography, the Utilization Review Committee of the University Hospital (UH), University of Washington, Seattle implemented a policy encouraging use of the criteria in ordering skull radiology. The Bureau of Radiologic Health of the FDA supported a project comparing skull radiology use patterns at UH, with the high yield criteria policy, and Harborview Medical Center (HMC), without a policy. Results showed an increase of around 60% at HMC since the 1972--73 academic year. At UH, there was a decrease of 40% since the 1972--73 academic year. At HMC a medical record review showed only 51 positive reports that significantly contributed to patient care, about the same rate observed in 1967. At the UH, only nine positive reports significantly contributed to patient care, with 62% compliance with the high yield criteria. A current demonstration project under the auspices of the Washington State Professional Standards Review Organization and Bureau of Radiologic Health involves implementing the high yield criteria list at both HMC and UH. After three months, out of 6,003 patient visits, skull radiography was deemed necessary in 518 cases. Of this total 181 had high yield criteria checked. There were 37 positive reports out of these and 23 examinations that made a documented significant contribution to patient care. In the group without high yield criteria, 434 cases, there were 22 positive reports but no significant contribution to patient care documented after four weeks.

Mediastinal chemodectoma and thoracic aortography: A case report

Summary A case of chemodectoma probably arising from the aortic body near the left subclavian artery is reported. The vascular nature and the extent of the tumour is demonstrated by thoracic aortography. Careful evaluation of the information available from this examination should contribute significantly to subsequent management of these tumours.

Demonstration of collateral circulation to the lungs with angiocardiographic studies in congenital heart disease

Abstract Two cases of cyanotic congenital heart disease with extensive central and peripheral collateral circulation are presented. Filling of the pulmonary arteries via these collaterals was demonstrated by angiocardiography. A third patient with obliterative pulmonary hypertension had very prominent bronchial arteries but failed to show gross flow from bronchial to pulmonary arteries, either on angiographic or postmortem injection. The enlarged bronchial arteries in this patient probably functioned as collateral circulation to the peripheral lung deprived of pulmonary artery flow by advanced obliterative changes.