[A whole family affected by xeroderma pigmentosum: clinical and genetic particularities]. / Xeroderma pigmentosum: particularités cliniques et génétiques d'une famille dont tous les membres sont atteints.

INTRODUCTION: Xeroderma pigmentosum is a relatively frequent genodermatosis in North Africa. It is characterized by abnormal sensitivity to ultraviolet light, responsible for the early occurrence of multiple cutaneous neoplasms. We present the results of the clinical and biological investigations in a family in which all its members exhibited xeroderma pigmentosum. PATIENTS AND METHODS: Since 1962, the father, mother, the 5 children and the maternal uncle were all followed-up in the dermatology department in Tunis for a variant of xeroderma pigmentosum. Clinical (dermatological, neurological and ophthalmologic), biological, photobiological and molecular biology investigations were carried out. RESULTS: Diagnosis of a variant of xeroderma pigmentosum was established on the delayed appearance (after the age of 4) of poikiloderma and the early onset of multiple carcinomas, without neurological disorders. Fifty-eight squamous cell and 3 basal cell carcinomas were diagnosed and treated by surgical exeresis or radiotherapy. The third child, treated with etretinate for 6 years, had developed 38 carcinomas. Contrary to the parents, whose first carcinomas had appeared at the age of 34 and 40 years, the cutaneous cancers in the children appeared early, between the ages of 17 and 24. The minimal erythematous dose was normal in all these patients. Conversely, the phototest revealed persistent erythema and the delayed appearance of multiple dyskeratosis cells. Molecular biology confirmed the diagnosis of xeroderma pigmentosum with the presence of a low level DNA repair. The third child, the father and the uncle respectively exhibited DNA repair rates of 32, 57 and 72%, compared with normal controls. The results of the complementarity tests conducted in the third child suggested that this family belonged to the genetic F group. Discussion The clinical and molecular data confirmed the diagnosis of xeroderma pigmentosum in this family and their genetic F group profile. However, this family exhibited clinical (the cutaneous involvement was more severe in the children) and molecular heterogeneity and the level of DNA repair was high in comparison with the levels (between 12 and 15%) reported by Japanese authors in group F xeroderma pigmentosum. The third child exhibited 10-fold more carcinomas that his siblings. This high rate of carcinoma may be explained by excessive exposure to sun and/or the retinoid treatment, particularly since his DNA repair rate (32%) was relatively high compared with that of severe (0-5%) and moderate (5-15%) forms of the disease.

[Epidemiologic data in renal lithiasis in adults]. / Données épidémiologiques de la lithiase rénale chez l'adulte.

The morpho-costitutional analysis of 574 urinary lithiasis emitted by tunisean adults permitted to define an épidemiology's profile. This resemble to the épidemiology's profile of under-developed conry: Amore raised frequency of the renal lithiasis at the man than at the woman with a sec ratio of 2.4. An average age of +14 years with a peak to 4th decade in 2 sexes. The upper localitation of the calculi is founded in 94% cases. The fréquency of the relapses, the mode of expulsion and the size of calculi are différent of those published in the litérature. Probably because the time of study which last 4 years is too short, so it don't enable us to find a result like the literature. The surgery is the mode of most fréquent élimination (51%). This s dû to the présence great size calculi in our popûlation and to the récent introduction of the lithotritie in our country.

[Diabetes and the day hospital]. / Diabète et hopital de jour.

The day hospital is a relatively new way of hospitalization in Tunisia, the first experience beginning in 1985 to the National Institute of Nutrition. This hospitalization avoid the drawbacks of classic hospitalization (dependency, discomfort, separation) and boredom and present a lot of advantages of social command, humanitarian, psychological, medical and economical the cost of hospitalization is clearly reduced). This day hospitalization is beneficial in several pathologies notably the illness nutrition and metabolic diseases (diabetes, obesity, dyslipoproteinemia, hyperuricemia), where the patients continue to have a good physical activity and where the education médico sanitary and dietary hygiéno occupies a position of choice.

Urolithiasis in Tunisian children: a study of 120 cases based on stone composition.

The composition of urinary stones in children depends on socioeconomic conditions and hygiene, geographical area, and dietary habits. We analyzed urinary stones from 120 consecutive Tunisian children (81 males, 39 females) aged 5 months to 15 years. The stone was located in the upper urinary tract in 91 cases (76%). Stone analysis included both a morphological examination and an infrared analysis of the nucleus and the inner and peripheral layers. The main components of bladder calculi were whewellite (69%) and struvite (22%), whereas the main component of upper urinary tract calculi was whewellite (67%). The nucleus of bladder stones was composed of ammonium urate (45%), struvite (28%), cystine (10%), and carbapatite (7%). The nucleus of kidney and ureteral calculi was mainly composed of ammonium urate (38%), whewellite (24%), carbapatite (13%), or struvite (11%). Based on stone composition, urinary tract infection was involved in the nucleation or growth of a third of calculi. Endemic urolithiasis involving simultaneous nutritional, metabolic, and infectious factors, and defined by its nucleus composed of ammonium urate without struvite, represented 40% of cases. Exclusive metabolic factors - including genetic diseases such as primary hyperoxaluria, cystinuria, and hypercalciuria - were responsible for less than 25% of cases.

[Urinary calculi in children: contribution of anamnesis, biological exploration and physical analysis of calculi to the etiological diagnosis]. / La lithiase urinaire de l'enfant: contributions de l'anamnèse, de l'exploration biologique et de l'analyse physique des calculs au diagnostic étiologique.

BACKGROUND: It is always of importance to define the cause of urinary calculi disease in children to prevent recurrence and possible impairing of renal function. Nevertheless, etiology is not always easy to prove and must be deduced from both clinical and biological arguments. PATIENTS AND METHODS: The aim of this prospective study including 39 Tunisian children with urinary stones was to identify etiology and stone risk factors and detail the part of clinical and biological data and results of physical analysis of stones in determining the cause of the stone. RESULTS: In 31 cases among 39, clinical and biological data were not sufficient to identify clearly the stone etiology. When considering the structure and stone composition, the cause of the stone could be determined in 97.4% of the cases. An inherited disease was found responsible for the stone in 11 children, urinary tract infection in 13 cases, idiopathic hypercalciuria in nine cases and a nutritional deficiency disease in seven cases. In one case, polycystic kidney disease with metabolic risk factors could explain the stone process. No precise etiology was found in one case. Among infection stones, struvite stones could be related to urea-splitting bacteria while other calculi, containing whitlockite and protein matrix could be related to other micro-organisms. Earlier severe chronic diarrhoea episodes were noted in six among seven children presenting stones with a nucleus mainly composed of ammonium urate. CONCLUSION: Clinical data, biological data from both urine and blood of the patients and also the structure and composition of the stones are needed to identify the cause of urinary calculi. Such a procedure could provide the stone etiology in most cases.

[Primary hyperoxaluria: Tunisian experience apropos of 24 pediatric cases]. / Hyperoxalurie primitive: l'expérience tunisienne à propos de 24 cas pédiatriques.

We report on 24 children (10 girls) presenting with primary hyperoxaluria. The mean age at diagnosis was 6.3 years (range: 3 months-14.8 years). The mean interval between initial symptom and diagnosis was 1.3 year. The average follow-up period was 22 months (range: 1-60 months). At the time of diagnosis the renal function was normal in 6 children, moderately altered in 1 and severely in 17. During the follow-up the renal function remained stable in 6 patients, improved in 2, deteriorated in 4. The 12 patients with end-stage renal disease at diagnosis remained unchanged. Urolithiasis were present in all patients older than 2 years, and in 1 among the 5 infants. Medullary nephrocalcinosis was observed in 3 patients in whom the renal function was preserved. Diffuse nephrocalcinosis was present in all patients with end-stage renal failure. Improvement of renal function was secondary to stone removal in 2 patients. Extracorporeal shock wave lithotripsy performed in 7 patients was efficient only in 3. In 10 patients oxalate bone disease was correlated with both renal function and dialysis duration, whereas retinal involvement noted in 6 patients was not.

[Etiologic factors of urinary lithiasis in Tunisian children]. / Facteurs étiologiques de la lithiase urinaire de l'enfant en Tunisie.

Fifty-five Tunisian children with urinary stones, between the ages of 8 months and 15 years, underwent morphological and infrared spectrophotometric analysis of their stones. This study provides an approach to the aetiological profile of urinary stones in Tunisian children. The nucleus of the stones was composed of acidic ammonium urate in 48% of cases with a morphology suggestive of phosphorus deficiency associated with a history of diarrhoea. In 24% of cases, the nucleus contained struvite indicating the presence of urinary tract infection by urease-positive bacteria. The main growth factors of urinary stones were hyperoxaluria and urinary tract infection. In 5 cases, the stones were due to a hereditary lithogenic metabolic disease : cystinuria in 1 case and primary hyperoxaluria in 4 cases.