Inability of community-based laboratories to identify pathological casts in urine samples.

OBJECTIVE: To determine the accuracy of microscopic examination of urine from patients with known renal disease, performed by community-based laboratories. DESIGN: Twenty-six urine specimens from 7 children with Alport syndrome, lupus nephritis, and IgA nephropathy were simultaneously submitted to 4 investigative sites: 2 community-based medical laboratories (laboratories A and B), and the offices of 2 nephrologists (nephrologists C and D). Participants A, B, and C were unaware of the nature of this investigation and blinded to the diagnosis associated with each specimen. RESULTS: Twenty-six specimens from 7 children were analyzed. Pathological casts were identified in the 26 submitted specimens in the following order: 1 (4%) by laboratory A, 2 (8%) by laboratory B, 20 (77%) by nephrologist C, and 26 (100%) by nephrologist D. Four-way and 3-way (A, B, C) comparisons using the chi 2 test are significant at the P < .001 level. CONCLUSIONS: The 2 community-based medical laboratories participating in this study did not accurately identify pathological casts in urine specimens routinely submitted to them. In addition to raising quality assurance issues, these misleading reports may result in inaccurate diagnosis and unnecessary laboratory and diagnostic investigations.

Organ transplantation at the Hartford Transplant Center.

Over 1,243 organ transplants have been performed at the Hartford Transplant Center over the past two decades. Survival in kidney, heart, liver, and pancreas patients is at or above the national average. Hartford was one of the first centers to use triple immunosuppression, which significantly improved survival in kidney transplantation. For recipients of kidneys from living related donors and cadaveric kidneys, two-year actuarial graft survival has been 98% and 83%, respectively, over the last five years. For heart and liver transplants, two-year survival has been 79% and 67%, respectively. Despite high success rates at most transplant centers, donor organs remain scarce. This problem needs to be addressed through increased cooperative efforts in the health-care community and the general public.

Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus.

Congenital nephrogenic diabetes insipidus (CNDI) is a rare X-linked disorder in which the renal collecting duct is unresponsive to arginine vasopressin, and thus, the urine is consistently hypotonic to plasma. As a result, affected individuals are unable to concentrate urine and suffer from episodes of severe dehydration and hypernatremia. Recently, the association between arginine vasopressin V2 receptor gene mutations and CNDI has been demonstrated. In this report, two additional novel molecular defects of the arginine vasopressin V2 receptor gene in CNDI families are described. In one family, the affected individual demonstrated a G-->T transversion causing a nonsense mutation in codon 231. This mutation results in a glutamic acid becoming a termination codon, causing premature termination and truncation of the encoded receptor protein. This mutation causes a NciI site within the gene to be abolished and a BsaWI site to be created. In the second family, affected individuals showed a 28-basepair duplicating insertion in the very beginning of exon 2 down-stream of the splice acceptor site. It was hypothesized that an insertion mutagenesis mechanism involves the formation of a stem-loop structure within the newly synthesized DNA strand, followed by a slipped mispairing. This may be a general mechanism for the deletion or insertion of repeated sequences within the genome. Recent data show that G-protein-coupled receptors are susceptible to many different mutations that often result in the loss of function, causing a similar clinical phenotype.

Systemic hypertension.

Hypertension in neonates is no longer a rare entity due to improved methods of surveillance, increased vigilance on the part of clinicians, and as a complication of the technologies employed in neonatal intensive care units. Although good broad-based normative blood pressure data in preterm and term neonates is not available, the existing literature allows us some guidelines for defining hypertension. The multiple etiologies and clinical presentations are discussed, as well as a practical approach to evaluation. Pharmacologic management is presented, including some of the newer drugs. With aggressive management, the prognosis for resolution of hypertension in almost all instances is excellent; however, it remains to be seen what, if any, long-term effects will occur.

Epidemiology of a cluster of Henoch-Schönlein purpura.

We investigated a case cluster of Henoch-Schönlein purpura that occurred in Connecticut during the fall and winter of 1987-1988. In Hartford County, where the case finding was most complete, 16 children were identified with disease onset during the 7-month cluster period (incidence, 1.7 cases per 10,000 children per year) compared with only 3 children with disease onset during the preceding 7 months. The incidence in Hartford County was higher among urban (4.8/10,000) and Hispanic (8.6/10,000) children and children in lower socioeconomic groups (6.9/10,000) than among suburban children or children in higher socioeconomic or different racial groups (0.9 to 1.1 per 10,000). We performed a case-control study involving 14 of the 16 case children from Hartford County, 10 case children from nearby areas, and 47 control children matched to the case children by age and race. Case children were more likely than control children to have had a sore throat during the month before the onset of Henoch-Schönlein purpura (52% vs 22%; odds ratio, 3.8; 95% confidence interval, 1.1 to 13). This difference and other smaller differences between case and control children suggest that the cluster may have been caused by person-to-person spread of an infectious agent of the respiratory tract to susceptible hosts. To our knowledge this is the first report of a cluster of Henoch-Schönlein purpura, and it provides clues for a better understanding of the etiology and epidemiology of the disease.

Cerebral vascular accident during the recovery phase of hemolytic uremic syndrome.

The hemolytic uremic syndrome (HUS) of children is characterized by microangiopathic hemolytic anemia and acute renal failure. Although a wide spectrum of neurologic symptoms are commonly observed in patients with HUS, the pathogenesis of the central nervous system (CNS) impairment of HUS is often unclear. Microthrombi of cerebral vessels similar to those demonstrated in the kidneys have been reported. The neurologic manifestations generally occur during the early and active phase of the disease. We report a 4 year old boy with HUS who suddenly developed a dense hemiplegia subsequent to hematological and a marked nephrological recovery. The child's cranial axial tomography scan demonstrated a large area of infarction in the region of the right basal ganglia. Follow up examination eight weeks after insult revealed a distinct neurologic recovery with mild loss of fine motor function of the left hand and weakness of the left leg.

Gonorrhea in a five year-old boy with hematuria.

A case of hematuria due to gonorrheal infection occurring in a 5 year-old child is described. Since venereal disease in a prepubertal child may reflect sexual abuse, all cases of prepubertal gonorrhea should be carefully investigated.

Renal venous thrombosis in neonates. Initial and follow-up abnormalities.

Five neonates with renal venous thrombosis (RVT) were studied at the onset of the disease, and four have been followed up for from 24 to 32 months after the time of diagnosis. Reduced glomerular filtration (two of four cases) on follow-up occurred only in infants with bilateral abnormalities as shown by results of physical examination, urography, renal scan, and angiography. Results of contrast studies showed the similarity between resolved RVT and certain congenital renal abnormalities. Renal tubular defects (polyuria, acidosis, hyperkalemia) constituted the primary clinical abnormalities in one of the two infants with renal insufficiency. Although the prognosis of RVT after medical management has improved, the ultimate outcome is unknown; the possibility of unsuspected neonatal RVT should be considered during investigation of children with unilaterally or bilaterally small kidneys.

Vascular anatomy of the human uterus and pregnancy wastage.

In uteri removed at hysterectomy the uterine arteries were injected with radioopaque media and the vascular configuration was correlated with reproductive histories. Patients whose uteri had two ascending uterine arteries on each side had significantly more abortions and smaller newborn infants than patients with a single ascending branch of the uterine artery.