TSC2/PKD1 contiguous gene syndrome in an adult.

A 48-year-old woman with a history of autosomal-dominant polycystic kidney disease (ADPKD), was found to have multiple renal angiomyolipomas on a pathological examination after nephrectomy. The clinical and pathological presentation is consistent with the diagnosis of TSC2/PKD1 contiguous gene syndrome, caused by the simultaneous loss of TSC2 and PKD1, the two major genes for tuberous sclerosis complex and ADPKD.

[Retinopathy caused by interferon. Apropos of a case]. / Rétinopathie à l'interféron. A propos d'un cas.

Toxic retinopathy due to alpha interferon in a 20-year-old female is reported. This was an unusual case due to its severity in a non diabetic patient. Recovery of visual acuity was incomplete though angiographic tests normalized. Retinal toxicity in nondiabetic patients is usually reversible, suggesting careful surveillance of high risk patients with retinal microangiopathy given interferon therapy.

[Neurologic Behçet disease]. / Neurobehçet.

BACKGROUND: Behçet's disease is very occasionally revealed by neurological abnormalities. This report describes such a case. CASE REPORT: A 13 year-old girl was admitted because of status epilepticus and fever. Clinical examination showed horizontal nystagmus, cerebellar syndrome, right hemiplegia, ophthalmoplegia and meningitis. Her CSF contained 80 lymphocytes/mm3, 0.75 milligram proteins and 0.5 milligram glucose. CT scan showed a hypodense area in the internal capsule. Two similar episodes occurred 4 and 6 months later, but all attempts at determining the etiology were negative. A diagnosis of neurological Behçet's disease was considered 10 months after the first episode when the patient developed oral ulcers followed by pseudofolliculitis of the scalp. The disease recurred several times despite treatment with prednisone, colchicine and antiaggregant drugs. CONCLUSION: Recurrent aseptic meningitis is a classic manifestation of neurological Behçet's disease. It usually appears 2 months to 27 years after the first extraneurological signs and not, as in this case, several months before.

[Focusing on peritoneal dialysis adequacy]. / Adéquation en dialyse péritonéale : mise au point.

The optimal method to assess the adequacy of peritoneal dialysis therapies is controversial. Today, the adequacy must not be considered as a number or a concept assessed only by two parameters (total KT/V urea and total solute clearance) but defined by many more items. In the absence of data, based on theoretical considerations, the reanalysis of the CANUSA study showed that renal kidney function, rather than peritoneal clearance, was associated with improved survival. Residual renal function is considered as a major predictor factor of cardiovascular mortality. Results of this reanalysis were supported by the adequacy data in ADEMEX, EAPOS and ANZDATA studies. Therefore, clinical assessment plays a major role in PD adequacy. The management of fluid balance, the regular monitoring of malnutrition, the control of mineral metabolism and particularly the glucose load, considered as the "corner-stone" of the system, are the main points to be considered in the adequacy of PD patients. The essential goal is to minimize glucose load by glucose-sparing strategies in order to reduce the neoangiogenesis of the peritoneal membrane.

[Imerslund-Najman-Gräsbeck anemia. Apropos of a case]. / L'anémie d'Imerslund-Najman-Gräsbeck. A propos d'un cas.

Imerslund-Najman-Gräsbeck anemia is an infrequent disease with an autosomal recessive pattern of inheritance. The characteristic anomaly is selective malabsorption of vitamin B12 by the ileal mucosa. Diagnosis rests on a positive family history and on the demonstration of megaloblastic anemia with proteinuria. The proteinuria is due to glomerular dysfunction with mesangial proliferation. Management rests on lifelong parenteral administration of vitamin B12. A case of Imerslund anemia with a favorable outcome under vitamin B12 treatment is reported.

[Concerning: aging, the beginning of dialysis, the beginning of dependence: repercussions on the psychopathology of the very old dialysis patient]. / Le point sur: vieillissement, entrée en dialyse, entrée en dépendance: répercussion sur le psychisme du patient dialysé très âgé.

The incidence of psychopathology, particularly depression, is high in dialysed elderly patients whereas their perceived level of health in the mental domain is similar to that of a non-dialysed and, even younger, population. Although the losses associated with advancing years, chronic disease and then entry into dialysis renders the psyche of elderly people frail, they do not strictly add in negative terms: their psychological reserve or resignation helps very elderly people to tolerate dialysis and its constraints. However, maintaining functional autonomy (ability to provide for one's fundamental needs and preserve leisure activities) while remaining independent to take decisions (particularly in controlling ways of receiving assistance) and preserving close relationships emerge as major determinant factors of the quality of life of very elderly dialysed patients. Added to the dependency due to dialysis, losses in these domains very often represent a turning point by changing the patient's identity, predisposing to the development of relationship problems, leading the patient to question his self-esteem or even resulting in psychological dependency, which itself adversely affects the quality of life. These mechanisms of psychopathology may not hide the possibility of an underlying dementia.

[Symptoms and quality of life of hemodialysis patients aged 75 and over]. / Symptômes et qualité de vie de patients hémodialysés de plus de 75 ans.

BACKGROUND: The population of dialysed patients includes an increasing percentage of very elderly patients. Although their life expectancy continues to increase, there are few currently available data about their quality of life. OBJECTIVES: descriptive analysis of the determinants of quality of life, perceptual level of health and quality of life, and estimation of symptomatic complaints in a population of very elderly haemodialysed patients. METHOD: Study of 35 haemodialysed patients aged 75 years old and older, who answered a questionnaire divided into 7 parts, defining: the determinants of their quality of life by open-ended questions, the prevalence of complaints amongst 35 pre-determined symptoms, Folstein MMSE performance, scores on Katz (ADL) and Lawton (IADL) independence scales, SF-36 perceptual health scale, and score subjectively allocated by the patients to their quality of life. RESULTS: Maintenance of functional autonomy, independence in the decision-making process and maintaining good relationships with friends and family were major determinants of quality of life. Asthenia, the major complaint, was well reflected the reduced physical capabilities of the patients (mean SF-36 physical score: -1.1 SD). Despite the high prevalence of incapacitating painful symptoms (42%) and psychological symptoms (23%), autonomy remained satisfactory (mean ADL score: 5.6 out of 6 and IADL: 58%). The levels of perceptual health and of quality of life remained satisfactory for the majority of patients (mean mental SF-36 score: -0.06 SD, and 84% of the patients scored their quality of life > 5 out of 10). CONCLUSION: These figures indicate the considerable resources that these patients could mobilise. It also emerges as an additional argument against the exclusion, based only on the criteria of age and multiple pathologies, of the oldest patients from the access to dialysis.

[Erythermalgia: a rare vascular acrosyndrome]. / L'érythermalgie, acrosyndrome vasculaire rare.

A case of erythermalgia with arterial hypertension that appeared in a 13 year-old boy is described. This condition led to a loss of weight of 10 kg within one month. None of the diseases known as a cause of this rare condition was found. Clinical manifestations were only improved when extremities were placed in cold water: treatment with pizotifene was also effective suggesting the role of serotonine in the mechanism of the crises.