Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.

BACKGROUND: The efficacy of ACE-inhibitors in decreasing microalbuminuria and proteinuria has been reported in a few patients with glycogen storage disease type 1 (GSD1); however, no case-control study has ever been published. AIM: The aim of the current study was to evaluate the efficacy of ACE-inhibitors in reducing glomerular hyperfiltration, microalbuminuria and proteinuria, and in delaying the progression of renal damage. PATIENTS AND METHODS: Ninety-five patients (median age at the time of the study: 14.5 years) were enrolled from nine Italian referral centres for metabolic diseases. A retrospective study of a 10-year follow-up was conducted in order to compare the evolution of these parameters in treated patients with those who were not treated with ACE-inhibitors. RESULTS: A significant and progressive decrease of glomerular filtration rate was observed in treated patients vs. those who were not treated with ACE-inhibitors (P < 0.05). No difference was observed for microalbuminuria and proteinuria between the two groups of patients. Moreover, the ACE-inhibitors significantly delayed the progression from glomerular hyperfiltration to microalbuminuria, but not that from microalbuminuria to proteinuria. CONCLUSIONS: The results of the present study underline the importance of a strict follow-up of renal function in GSD1 patients. The detection of glomerular hyperfiltration suggests precocious initiation of ACE-inhibitor treatment to delay the progression of renal damage. A randomized prospective study is needed to establish for certain the real effectiveness of this treatment in GSD1 patients.

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. Five patients did not harbor mutations in MLC1, supporting the existence of at least one other MLC locus.

Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review.

BACKGROUND: The cardinal characteristics of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment. METHODS: As very few patients with this syndrome have been described, we provide information on nine patients on follow-up at our institutions and review the 42 cases reported in the literature (33 females and 18 males). RESULTS: Urinary tract infections, polyuria-polydipsia, renal stones and tetanic convulsions were the main clinical findings at diagnosis. The clinical course was highly variable; renal failure was often reported. The concomitant occurrence of ocular involvement or hearing impairment was reported in a large subset of patients. Parental consanguinity was noted in some families. CONCLUSIONS: The results indicate an autosomal recessive inheritance. The diagnosis of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis deserves consideration in any patient with nephrocalcinosis and hypercalciuria.

Spondylo-costal dysostosis in two siblings.

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.

[Epidemiology of symptomatic infections of the urinary tract in the first two years of life]. / Epidemiologia delle infezioni sintomatiche delle vie urinarie nel primo biennio di vita.

The incidence of symptomatic Urinary Tract Infection (U.T.I.) in 2980 children aged under 2 years was valued. The study was performed in the Pediatric Clinic of Palermo between January 1988 and December 1989 involving a number of out paediatricians. The U.T.I. incidence was found to be 3.38%, with a higher frequency in males (4.7%) than in females (2.03%). Urinary tract malformations was diagnosed in 60% of patients with U.T.I. echographically and radiographically examined.

[Recurrent wheezing in subjects with preceding bronchiolitis. Role of environmental and genetic factors]. / Wheezing recidivante in soggetti con pregressa bronchiolite. Ruolo di fattori ambientali e genetici.

We have been following for one year 39 patients, who had been hospitalized in our Institute for an episode of bronchiolitis in the period between November 1986 and April 1987. Only 30 patients (17 males and 13 females) have completed the follow up. The patients have been divided into two groups. The group A (subsequent episodes of broncho-stenosis) was made up of 14 subjects, where as the group B (not-subsequent episodes of broncho-stenosis) counted 16 subjects. In the first group the episodes of wheezing have been 3,14 for Year (range 1-6). The patients of the two groups didn't differ for the gestational age, birth weight, respiratory distress in the first life hours; they moreover were homogeneous for the clinical gravity score and for the period in bed. We have evaluated if certain environmental factors such as the passive smoking, the socio-economical and dwelling conditions of the family and some genetic features such as the familiarity for atopy and the Ig E level may predispose the patients affected by bronchiolitis to a higher incidence of recurrent wheezing. Our data show how the above mentioned factors do not influence the recurrent wheezing in the patients with preceding bronchiolitis.

[Is appearance of bronchiolitis affected by environmental and genetic factors?]. / L'insorgenza della bronchiolite è condizionata da fattori ambientali e genetici?

We have respectively studied 39 patients (22 males and 17 females) in an age below 18 months affected with bronchiolitis and hospitalized in the "Istituto di Pediatria B (Institute of Pediatrics B) of Palermo's University from november 1986 to april 1987. The parameters we have considered are: 1) the family predisposition to atopy; 2) the type of suckling; 3) the social and economical conditions pointed out the overcrowding index; 4) the every day consumption of cigarettes by the cohabitant relatives; 5) the total dosage of IgE. The data of the hospitalized patients have been compared with the ones pointed out in an "examination group" formed by 64 subjects (36 males and 28 females). The frequency of family predisposition to atopy in our patients has turned out to be inferior to the group examined. The overcrowding index allowed a superposition in the two groups. Among our patients we have found a smaller amount of breast-fed babies and a greater number of smoking cohabitant in comparison with the controls even if the differences statistically were not significant. The serial IgE levels, carried out in 29 patients, resulted high in 6 children (20.69%).

[Renovascular hypertension in childhood]. / Ipertensione reno-vascolare in età pediatrica.

One to two per cent of children and up to 11% of adolescent have arterial hypertension. In most cases children and adolescent are not recognized to be hypertensive because physicians do not routinely measure blood pressure. Often the diagnosis is recognized only when the pediatric patients develop a complication: seizure, stroke, heart failure or paraplegia. Renovascular hypertension in children and adolescents is more common than all of the other causes combined, except for coarctation of the aorta. The diagnosis is not so easy and includes the usual history, physical examination (signs and symptoms of coarctation of the isthmic or abdominal aorta or of an abdominal mass or of one of the adrenal causes of hypertension), laboratory studies, abdominal ultrasound study and chest x-ray. Sometime a CAT can be usefull. The next steps are the early and rapid-sequence IVP, renal angiography and peripheral and renal renin activity. The management of renovascular hypertension in children and adolescent includes a conservative approach (percutaneous transluminal renal angioplasty or renal embolization), rarely used in pediatric age, and the surgical treatment. This latter includes all the surgical procedures of renal revascularization and, in unilateral renal parenchymal diseases, the nephrectomy or a partial nephrectomy. The postoperative results are very good in a high percentage of cases. In bilateral cases, the revascularization surgical procedures improve or normalize also the impaired renal function.

[Urinary tract infections in the first 2 years of life. Usefulness of anamnesis in the identification of at risk subjects with malformation uropathies]. / Le infezioni delle vie urinarie nel primo biennio di vita. Utilità dell'anamnesi nell'identificare i soggetti a rischio di uropatie malformative.

We have retrospectively studied 101 patients with an age below 24 months consecutively hospitalized, for symptomatic urinary tract infections, in the "Ospedale dei Bambini" of Palermo and subjected to radiological studies (urography and voiding cystouretrography). We have considered if the symptoms and the clinical objectivity could have given useful indications in the choice of the patients to be subjected to radiological studies. The clinical-anamnestic data have not allowed to distinguish, among patients with U.T.I., between the individuals with an abnormal conformation those with a normal one; however they have allowed to focus our attention on patients with U.T.I. through the singling out of some symptoms such as fever, vomit, cyanosis and anomaly micturition. Another datum standing out from our study is that the beginning of the symptoms in patients with U.T.I. was more precocious if at their basis there was urinary malformation.

[Quantitative determination of urine bacteria in the diagnosis of urinary tract infections in children]. / La batterioscopia urinaria quantitativa nella diagnosi di infezione delle vie urinarie in età pediatrica.

Bacteria counts in fresh, unstained, uncentrifuged urine specimens, using a phase-contrast microscope, magnification X 400, and a hemocytometer chamber, proved to be a very useful method not only of excluding (specificity 0.92) but also identifying urinary tract infection (sensitivity 0.90) in children. The presence of greater than 5/0.1 ml bacteria in the urine was taken as the threshold value. The evaluation of leukocyturia alone did not alter the sensitivity of the method, even when it was associated with bacteriuria. When Proteus was isolated from urine cultures, the bacteria count proved negative in 60% of cases; otherwise when different bacteria were isolated in urine cultures, they were then identified during the bacteria count. The method is simple, inexpensive and rapid (it requires only a few minutes) and it may be used in a pediatric outpatient or hospital setting.

[Hydronephrosis in childhood. Long and mid-term morphologic and functional results]. / L'idronefrosi in età pediatrica. Risultati morfologici e funzionali a medio-lungo termine.

Hydronephrosis in infancy and childhood is a frequent urinary malformation and is almost always congenital. In over 80% of the cases it is due to ureteropelvic junction obstruction; in about 17%, anomalous renal vessels at the ureteropelvic junction are present. The authors analyze their experience in the surgical treatment of hydronephrosis. 360 hydronephrosis out of 335 patients were operated on from November 1971 to November 1988. 108 patients were less than 1 year old (32.2%). Primary nephrectomy was carried out only in 11 of the 360 hydronephrosis operated on (about 3%). An anterior approach and a simple dismembering pyeloplasty were performed in the majority of the cases. From the radiological point of view there was an impressive amelioration or normalization in about 92% of the cases operated on. From the functional point of view the radionuclide scan showed a normal or slightly reduced renal function in almost 90% of the cases operated on. The preoperative and postoperative radionuclide study showed a moderate increase of the renal function in the majority of the cases controlled. The authors stress the importance of prenatal ultrasound diagnosis to improve long term results of an early surgical treatment.

[Palmar dermatoglyphics. Analysis carried out on 315 subjects of western Sicily]. / I dermatoglifi palmari. Analisi eseguita su 315 soggetti nella Sicilia occidentale.

The study of dermatoglyphics is one of particular diagnostic interest in many diseases, especially in the identification of some chromosomal aberration syndromes. The frequent occurrence for observation of this pathology and the need for comparison of the relevant dermatoglyphics with those of an adequate control group, caused us to carry a dermatoglyphic analysis of our population. We examined 315 normal subjects (147 males and 168 females) of Western Sicily.

[A case of transitory Fanconi syndrome associated with acute renal insufficiency and hypoplasia of the bone marrow]. / Su un caso di sindrome di Fanconi transitoria associata ad insufficienza renale acuta e ad ipoplasia del midollo osseo.

The authors report a case of an eight-years old child, who presented with transient Fanconi syndrome, mild renal failure and hypoplastic bone marrow. No recognized etiology of the Fanconi syndrome was demonstrated in the patient. Laboratory data and clinical course are consistent with the hypothesis of a tubulo-interstitial lesion caused, directly or through an abnormal immune response, by an unknown etiologic agent.

[Ring chromosome 4 in twins]. / Cromosoma 4 ad anello in gemello.

A case of ring chromosome 4 in an eleven months old male child with severe mental retardation, microcephaly and craniofacial anomalies is described. The karyotype was: 46,XY, r(4) p16----q35). The patient shows only few elements of the Wolf syndrome, whose phenotype is observed in most of the other cases with analogue karyotype.

[Urinary tract malformations. Symptomatology, delayed diagnosis and urinary tract infections]. / Le uropatie malformative. Sintomatologia, ritardo diagnostico e infezione delle vie urinarie.

The authors examined 88 patients (32 Males and 56 Females) aged between 1 day and 13 years, suffering from urinary tract malformation, diagnosed during 1981-82 . The vesicoureteral reflux was the urinary tract malformation most frequently observed (56.81%). The patients showed symptoms of the illness within the first year of life in a percentage of 52%, while the 82% was symptomatic in 5 years. 30 months and 11 days was the average age at which the symptoms of the illness appeared, while the diagnosis was effected at an average of 47 months and 15 days. The authors pointed out the reasons of this diagnostic delay and the possibilities of filing it up. Urinary tract infection was found at the time of hospitalization in a percentage of 55%. The authors described the kind of germs isolated and their resistance to the most common antibiotics.

[Sugiura's operation in the treatment of hemorrhaging esophageal varices]. / Trattamento delle varici esofagee sanguinanti con l'operazione di Sugiura.

Rebleeding, the long time high occurrence of encephalopathy and the impairment of hepatic function in the successful cases have led to increasing dissatisfaction in the last years with portasystemic shunt procedures. In the past 12 years we have operated on 14 children for bleeding esophageal varices using the Sugiura procedure (esophageal transection with paraesophagogastric devascularization); in two cases the entire procedure was performed through the thoracic approach. We had no mortality. Complications include bleeding in the early postoperative period in two children and partial leakage from the esophageal suture in two others. Patient follow-up has been between 16 months and 11 1/2 years with an average of 6 1/2 years. The long term controls have been gratifying in 12 patients with disappearance of the varices and no evidence of rebleeding, esophageal strictures, gastroesophageal reflux, encephalopathy or impairment of the hepatic function; in two other patients the operations was unsuccessful. In our opinion the Sugiura procedure should be the elected operation in the surgical treatment of esophageal varices bleeding in pediatric age, after an attempt with sclerotherapy.