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Background: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is an unusual disease that usually leads to end-stage renal failure. There is no specific treatment and, to a variable degree, patients with this disease present ocular abnormalities. The illness is due to a defect in the reabsorption of magnesium and calcium at the thick ascending limb of Henle because of a mutation of the PCLN-1 gene, which encodes a protein, paracellin-1, which intervenes in the reabsorption of both cations., Objective: To review outcome and the incidence of ocular abnormalities in our patients and in cases described in Spain and to compare the incidence found with that in groups from other countries., Method: Retrospective study of a group of patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis diagnosed at a hospital., Results: There were six girls and three boys with clinical symptoms of polyuria, polydipsia, and less frequently, urinary tract infections and lithiasis. All had hypomagnesemia, hypercalciuria and nephrocalcinosis. Five of the patients had renal failure at diagnosis and four underwent transplantation without recurrence. Eight patients had diverse ocular abnormalities. Eighty-one percent of Spanish patients had ocular abnormalities compared with 24 % of those from other countries. There was no evidence of successful medical treatment., Conclusions: Almost half of the patients presented chronic renal failure at diagnosis and most of the patients reached end-stage renal failure in the second or third decade of life. Normal glomerular filtration rate was found only in patients diagnosed at an early age. The most frequent extra-renal association in Spanish patients (81 %) corresponded to ocular abnormalities. Effective treatment consists of kidney transplantation that completely corrects the tubular disorder.

Objective: The purpose of this study was to search for risk factors for the evolution reflux nephropathy by comparing the results of the ambulatory blood pressures in a group of children with reflux nephropathy of different degrees., Patients and Methods: Out-patient blood pressure monitoring was performed in 31 children (15 males and 15 females) affected to different degrees by reflux nephropathy. This was done during a 24-hour period on a normal schoolday by using a Spacelabs 90207 oscilometric monitor. An appropriately sized armband was chosen for each case with the readings being programmed for every 20 minutes between 8:00 a.m. and 23:00 p.m. and every 30 minutes for the remaining readings. The mean blood pressure, blood pressure load and hyperbaric index over the 24 hour period (on all the readings obtained), activity period (0800 to 2200 hours) and the resting period (midnight to 6:00 a.m.) were calculated. The circadian variability (difference and ratio between the mean values of active and resting periods and the nocturnal fall in blood pressure as a percentage of the daytime mean value) was also determined. The children were classified into subgroups according to their degree of reflux nephropathy: Group 1) Degrees A and B of unilateral reflux nephropathy. Group 2) Degrees C and D of unilateral reflux nephropathy and Group 3) Bilateral nephropathy. Those monitorings with a percentage of erroneous readings over 30% were excluded., Results: Two children were excluded because of a high percentage of erroneous readings. We could not find any significant difference among the three groups in casual blood pressure. We observed significant differences between the group formed by children with unilateral reflux nephropathy and children with bilateral reflux nephropathy in the blood pressure during the resting period. No significant differences were found among the three groups in the tensional load, hyperbaric index or the variables that determine the nightly descent in blood pressure., Conclusions: Ambulatory blood pressure monitoring allow the detection of risk factors for the evolution of reflux nephropathy; i.e., higher risk of blood pressure elevation, especially during the resting period and mainly for bilateral reflux nephropathy.

In this paper we report a review of the omphalic pathology that was admitted to our hospital from january 1973 through december 1990. Eleven cases of Beckwith-Wiedemann Syndrome were diagnosed during this period of time. Our eleven cases comply with at least three of the four major criteria (omphalocele, macroglossia, gigantism and neonatal hypoglycemia) and several of the minor criteria. The interest of this paper is based on the rareness of this syndrome and its association in two of our cases with Cacchi-Ricci Syndrome. Moreover, one of these cases later presented with a Wilms' tumor. Finally, we emphasize the importance of an early diagnosis of this syndrome in order to avoid the metabolic disturbances (hypoglycemia), to establish prompt treatment of the serious anomalies (omphalocele) and to control and follow these patients since they have increased risk to develop neoplastic disease.

A 6-month-old girl with familiar history of two dead sisters few months old, was admitted to the Hospital with a neurological process. After her admission progressively worsened until her death. The patient had clinical manifestation of proximal tubular acidosis. Levels of lactic and piruvic acid were normal. Necropsic study was compatible with the diagnoses of subacute necrotizing encephalomielopathy of Leigh syndrome.

The first familial observation of the Marshall-Smith syndrome is showed. The propositi are a male and female relatives with a double consanguinity and whose family comes from a small area with a high rate of inbreeding. According to this hypothesis autosomal recessive inheritance for this syndrome is proposed as very suggestive. These two new cases seem to prove that the mental retardation may not be a typical clinic features and that survival of the cases longer that expected may be considered. One of our patients is a three years old female and the other one is nearly eleven years old male. The syndrome delineation is given by very closely homogeneous patterns. Said patterns also single it out from the Weaver syndrome.

Classically it is considered that vital prognosis of Lesch-Nyhan syndrome depends on renal affectation secondary to uric nephropathy. A case of Lesch-Nyhan syndrome treated with Allopurinol is described which presented multiple and bilateral renal stones by precipitation of xanthine. Treatment with Allopurinol inhibits the formation of uric acid and qualitatively renal excretion of oxypurines modifies. In special circumstances (disminution of urinary output and pH), they can precipitate and originate a radiotransparent lithiasis with uric lithiasis. Interest of this case, lies in being alert to possible xanthine stone formation in patients with a large excretion of purinics metabolites, who are treated with Allopurinol.

Authors describe a case of newborn whose malformations of genitourinary tract of abdominal muscles deficiency and renal dysplasia make it very compatible with Prune-Belly Syndrome. The case it is exceptionally interesting because it is a female subject; and on the other hand because of its' associated malformations. The so debated pathogenic of the Syndrome is commented.

This report describes the first pediatric case of chronic renal failure as a complication of infectious mononucleosis in a 3 1/2 year old girl. The clinical features were marked at onset by proteinuria and later by nephrotic syndrome. The evolution to chronic renal failure took about two years. In the renal biopsy, lesions characteristic of interstitial nephritis were observed, associated with focal and segmental glomeruloesclerosis and deposits of C3 in granular and discontinued form. Renal participation in infectious mononucleosis is not unusual and fundamentally it is manifested by proteinuria and abnormalities of urinary sediment, with interstitial nephritis as a characteristic lesion in the renal biopsy.

We report two cases of eosinophilic cystitis in children of 11 months and 11 and a half year of age respectively. The presenting symptoms were the emision of mucosanguinolent filaments in the urine in one case and with lower urinary tract symptoms and macroscopic hematuria in the other. Physical examination revealed in one of them a round, tough and painful mass in the hypogastric area. In one case we found peripheral blood eosinophilia. They both showed in the Urinalysis albuminuria, pyuria and hematuria, with the presence of eosinophils in one of them. Macroscopic examination presented in the two cases a tumoral, mamelonne mass in the wall of the bladded. The diagnosis was anatomopathologic due to the demonstration of an inflammatory infiltration, primarily of eosinophils. The clinical course was unfavourable in the case an hemicystectomy was practicated and self-limited in the one only symptomatic treatment was used.