Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.

Standardized guidelines for the oral health management of patients with rare diseases exhibiting morphologic anomalies are currently lacking. This review considers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as an archetypal condition. Dental anomalies are present in a majority of individuals affected by BBS due to abnormal embryonic orofacial and tooth development. Genetically encoded intrinsic oral structural anomalies and heterogeneous BBS clinical phenotypes and consequent oral comorbidities confound oral health management. Since the comorbid spectrum of BBS phenotypes spans diabetes, renal disease, obesity, sleep apnea, cardiovascular disease, and cognitive disorders, a broad spectrum of collateral oral disease may be encountered. The genetic impact of BBS on the anatomic development of oral components and oral pathology encountered in the context of various BBS phenotypes and their associated comorbidities are reviewed herein. Challenges encountered in managing patients with BBS are highlighted, emphasizing the spectrum of oral pathology associated with heterogeneous clinical phenotypic expression. Guidelines for provision of care across the spectrum of BBS clinical phenotypes are considered. Establishment of integrated medical-dental delivery models of oral care in the context of rare diseases is emphasized, including involvement of caregivers in the context of managing these patients with special needs.

Childhood pyelonephritis: comparison of gadolinium-enhanced MR imaging and renal cortical scintigraphy for diagnosis.

PURPOSE: To compare gadolinium-enhanced inversion-recovery magnetic resonance (MR) imaging with renal cortical scintigraphy in the diagnosis of childhood pyelonephritis. MATERIALS AND METHODS: Thirty-seven patients with fever-producing urinary tract infection underwent gadolinium-enhanced inversion-recovery MR imaging and technetium-99m renal cortical scintigraphy. Each study was read in double-blind fashion by two radiologists. The kidney was divided into three zones, and each was graded as positive, equivocal, or negative for pyelonephritis. RESULTS: Seventy kidneys (210 zones) were imaged. Twenty-six kidneys (54 zones) had evidence of pyelonephritis at both MR imaging and scintigraphy. Twenty-four kidneys (100 zones) were negative on both studies. Twelve kidneys (42 zones) were positive at MR imaging but negative at scintigraphy, and four kidneys (seven zones) were negative at MR imaging but positive at scintigraphy. The results of MR imaging for pyelonephritis were not equivalent to the results of scintigraphy (P = .001 for renal zones). The proportion of positive agreement between readers for the presence of pyelonephritis was 0.85 and 0.57 for MR imaging and scintigraphy, respectively. The proportion of negative agreement was 0.88 and 0.80 for MR imaging and scintigraphy, respectively. CONCLUSION: Gadolinium-enhanced inversion-recovery MR imaging enabled detection of more pyelonephritic lesions than did renal cortical scintigraphy and had superior interobserver agreement.

Glomerular losartan (DuP 753)-sensitive angiotensin II receptor density is increased in young spontaneously hypertensive rats.

There is increasing evidence that an activated intrarenal renin-angiotensin system (RAS) alters renal hemodynamics and fluid balance and that such events may lead to the development of hypertension. To examine the role of the glomerular RAS in the development of hypertension in the spontaneously hypertensive (SHR) rat, we studied angiotensin (ANG) II receptors in isolated glomeruli from young (4- to 5-wk-old) and adult (10- to 12-wk-old) SHR and from age-matched, normotensive Wistar-Kyoto (WKY) rats. Glomerular ANG II receptor density in young SHR is 3-fold higher than in age-matched WKY rats (2033 +/- 154 versus 742 +/- 151 receptors/microns2; p < 0.05) and 1.5-fold higher than in adult SHR and WKY rats (1128 +/- 85 and 1198 +/- 181 receptors/microns2, respectively; p < 0.05). Additional studies demonstrated that the differences in receptor density are not related to disparity in receptor occupancy and that they are also independent of systemic ANG levels. Suppression of RAS by ANG converting enzyme inhibitors resulted in a 3-fold increase in receptor density in young SHR rats and a 4.5-fold increase in young WKY rats; receptor density remained greater in young SHR rats (5915 +/- 318 versus 3358 +/- 234 receptors/microns2, p < 0.05). Furthermore, competitive binding experiments using the nonpeptide ANG II antagonists losartan (AT1) and PD 123319 (AT2) indicate that the greater ANG II receptor density in the young SHR rats represents an increase in the number of a single population of AT1 receptors.(ABSTRACT TRUNCATED AT 250 WORDS)

Efficacy of albumin and diuretic therapy in children with nephrotic syndrome.

OBJECTIVE: To examine the efficacy and complications of albumin and diuretic therapy in the treatment of edema due to the nephrotic syndrome. METHODS: The clinical and biochemical effects of 35 treatment courses of albumin and diuretics administered to 21 children with nephrotic syndrome were retrospectively examined. Treatment consisted of intravenous infusion of 25% albumin and furosemide. A second diuretic was administered in addition to furosemide during 10 treatment courses. There was an average of 5 infusions per hospitalization. RESULTS: Albumin and furosemide therapy resulted in a 1.2 +/- 0.2% (SEM) body weight loss per infusion. The administration of albumin with two diuretics did not result in improved weight loss compared to albumin and furosemide alone. Patients whose nephrotic syndrome was in remission at the time of posthospitalization follow-up (n = 8) had a sustained weight loss both during and after albumin and diuretic treatment. Patients with persistent proteinuria (n = 27) transiently lost weight during therapy, but returned to a weight similar to their pretreatment weight at 2-week follow-up. Albumin infusion resulted in hypertension, requiring acute antihypertensive therapy in 16 treatment courses (46%) and increased maintenance antihypertensive therapy in 12 treatment courses (34%). In addition, hypokalemia, hypernatremia, and hyperbicarbonatemia developed in 40%, 17%, and 11% of treatment courses, respectively. Albumin and diuretic therapy resulted in the development of respiratory distress during four treatment courses, including one patient who developed respiratory failure and one patient who developed congestive heart failure. CONCLUSIONS: Albumin and diuretic therapy results in fluid removal and weight loss in children with the nephrotic syndrome; however, this effect is transient unless remission of proteinuria occurs. While this is a retrospective study, the findings suggest that albumin and diuretic therapy can be associated with frequent and potentially serious complications.

Spontaneous remission of congenital nephrotic syndrome: a case report and review of the literature.

Spontaneous remission of congenital nephrotic syndrome is rare. We present a 5-week-old infant who developed proteinuria, hypoalbuminemia, and edema which spontaneously resolved with supportive care. Clinical and histopathological features of this patient and six previous reported remissions of congenital nephrotic syndrome are discussed.