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Biomedical subjects

A Ammenti

Publications and source records attributed to A Ammenti.

13 recordsLinked to original sources
PubMed2005

Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly type E). Here we describe a case that recently came to our attention of a girl suffering from seizures caused by hypocalcaemia, in which the clinical diagnosis of Albright's hereditary osteodystrophy and Pseudohypoparathyroidism (PHP) (Pseudohypoparathyroidism Ia) was confirmed by DNA molecular analysis. This analysis revealed a novel mutation of GNAS 1, resulting in the nonsense mutation of exon 13 (CAG-->TAG, codon 384). This result expands the spectrum of GNAS1 mutations associated with this disorder.

Chromogranins↗
PubMed1996

"Neonatal variant" of Bartter syndrome presenting with acidosis.

An infant is reported with the "neonatal variant" of Bartter syndrome, presenting at 5 weeks of age with metabolic acidosis associated with a life-threatening water and electrolyte depletion. Alkalosis was first shown after 2 weeks of vigorous fluid, sodium, and potassium substitution. We suggest that the extreme fluid and electrolyte losses associated with the "neonatal form" of Bartter syndrome could lead to acidosis more often than previously suspected, and may cause underdiagnosis of a possibly fatal condition.

Acidosis↗
PubMed1988

[Congenital stenosis of the mid ureter].

Congenital strictures of the mid ureter of the left side are very rare entities. One case, recently diagnosed and treated, causing hydroureteronephrosis of the upper tract is herein reported. Few similar cases have been recorded in literature reviews: infact, on the right side, or in more cranial or caudal portions, a ureteral narrowing can be found more frequently and often due to aberrant vessels, underlying once more the actual rarity of this entity on the left side. In the present case of congenital stricture of the mid left ureter no extrinsic causes of narrowing were found at operation, confirming the presence of a topic and segmentary anomaly of the muscular portion of the ureteral wall. Surgical treatment led to complete recovery.

Child↗
PubMed1986

Infantile cystinosis and insulin-dependent diabetes mellitus.

A 13-month-old infant was admitted to our Institution because of difficult metabolic control of diabetes mellitus. Clinical and laboratory findings revealed that the child was affected by both insulin-dependent diabetes mellitus and nephropathic cystinosis. Treatment with indomethacin was associated with growth improvement at an early stage of renal insufficiency, but not in more advanced renal failure.

Cystinosis↗
PubMed1986

Blood pressure behaviour and control in Turner syndrome.

UNLABELLED: Adult Turner syndrome (TS) patients frequently present hypertension. To clarify the pathogenesis of this hypertension we examined the blood pressure (BP) behaviour and the renin-angiotensin-aldosterone system in 31 TS patients (2-22 years of age). BP levels were occasionally elevated in 47% of the subjects and constantly elevated in 23%. Most of the patients were on estrogen replacement therapy, but 26% of them presented with elevated levels since childhood. Supine and upright plasma renin activity (PRA) values were higher in TS compared to controls and more elevated in hypertensive TS than in the normotensive ones. At Captopril challenge TS showed different PRA responses regardless of the karyotype and clinical features. Patients on estrogen therapy, however, exhibited higher increments of PRA after Captopril. CONCLUSIONS: TS patients show high frequency of hypertension in pediatric age. Estrogen therapy is an outbreaking and worsening factor. An estrogen independent role of the renin-angiotensin-aldosterone system in the pathogenesis of TS hypertension is still uncertain.

Adolescent↗
PubMed1980

Mineralocorticoids in the nephrotic syndrome of children.

Free aldosterone, the aldosterone precursor 18-OH-corticosterone, and 18-OH-deoxycorticosterone as well as the aldosterone metabolites 18-glucuronide and tetrahydroaldosterone were measured by radioimmunoassay in the urine of 24 children with the nephrotic syndrome. In addition renin activity, aldosterone and corticosterone were measured in plasma. All children with manifest edema showed increased values of one or more of the measured aldosterone parameters indicating hyperaldosteronism. In non-edematous patients one or more parameters were increased in 9 of 16 patients. Free aldosterone, tetrahydroaldosterone and 18-OH-corticosterone proved to be the most sensitive urinary parameters for the detection of increased mineralocorticoid function. Free urinary aldosterone was correlated with sodium excretion and with serum albumin. The pathogenesis of hyperaldosteronism in the nephrotic syndrome and its role in the development of edema are discussed.

Adolescent↗
PubMed1980

Chlorambucil neurotoxicity: report of two cases.

Chlorambucil neurotoxicity was observed in two children treated for frequently relapsing minimal change nephrotic syndrome. In the first child the drug was overdosed. Myoclonic jerks were observed, followed by a generalized tonic-clonic seizure. Concomitant EEG abnormalities disappeared after discontinuation of therapy, but reappeared 6 months later without further seizures. In the second child chlorambucil treatment was started twice, but had to be interrupted each time; the first time because of sudden collapse, bradycardia and respiratory arrest, and the second time because of myoclonic jerks. EEG changes were limited to generalized slowing and improved after discontinuation of therapy. According to the literature chlorambucil neurotoxicity is found almost exclusively in children, after overdosage or in the nephrotic syndrome. Strict neurologic supervision of patients treated with this drug is recommended.

Adolescent↗
PubMedDate not supplied

Hypercalciuria in osteogenesis imperfecta type I.

BACKGROUND: In Osteogenesis Imperfecta severity of disease and reduced physical activity have been considered the main factors contributing to hypercalciuria; however, its pathogenesis in Osteogenesis Imperfecta Type I, in which mobility is normal, is still unclear. PATIENT, METHODS AND RESULTS: We describe a patient with Osteogenesis Imperfecta Type I and hypercalciuria, in whom measurement of calcium intake, plasma 1 - 25(OH) (2) Vitamin D, fasting calciuria and tubular proteinuria led us to exclude an absorptive or renal component in the pathogenesis of hypercalciuria. CONCLUSIONS: We believe that hypercalciuria is determined by bone disease in Osteogenesis Imperfecta Type I. This condition should be added to the causes of normocalcemic hypercalciuria in children and the mildest forms should be differentiated from Idiopathic Hypercalciuria.

Age Factors↗