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Biomedical subjects

A Fanconi

Publications and source records attributed to A Fanconi.

At least 19 recordsLinked to original sources
PubMed1992

Long-term low-dose cyclosporin A in steroid dependent nephrotic syndrome of childhood.

Therapy of steroid-dependent idiopathic nephrotic syndrome is often unsatisfactory. Since 1986 we have treated nine children (six male and three female), aged 3-16 years, with cyclosporin A (CsA) during 2.0-5.2 (median 3.1) years. All had minimal change disease on renal biopsy and had previously received cyclophosphamide. Mean daily dosage of CsA was 4.1 mg/kg (range 2.7-5.8) and mean whole blood trough level was 220 ng/ml (range 141-271). The relapse rate decreased from 3.4/patient year before CsA to 0.55 on CsA. Discontinuation of CsA or reduction below 2 mg/kg daily was always followed by a relapse. The overall relapse rate, including the period with very low-dose CsA, was 0.95/patient year. Four patients required additional low-dose alternate-day prednisone. Repeat renal biopsy showed minimal change disease in eight patients and focal segmental glomerulosclerosis in one; CsA-toxicity was mild in two and moderate in one. The latter was the only patient with slightly reduced glomerular filtration rate. Two boys with delayed puberty spontaneously matured and reached expected final height. We conclude that long-term low-dose CsA is very effective and steroid-sparing. Its use is justified in selected patients, particularly in those with numerous relapses and in male patients before and during puberty, as long as renal function and CsA-toxicity are carefully monitored.

Adolescent↗
PubMed1992

[The clinical relevance of phosphorus and calcium in infant nutrition].

This paper is an introduction to the clinical part of the symposium and deals with the question of whether and under which circumstances the calcium and phosphorus content in baby formula can provoke pathological conditions. In a healthy baby, high or low mineral intake is efficiently compensated for by Ca-P homeostasis. Both nutritional calcium deficiency and calcium excess are the exception with modern baby feeding practices. However, P-deficiency states resulting in phosphopenic rickets might occur in premature babies and in children with familial hypophosphatemic rickets. These two conditions should be treated and prevented by an alimentary P-supplement. On the other hand, formula with a rich P-content might be a cause of the late form of neonatal hypocalcemia. Therefore, a relatively low-phosphate formula preparation, similar to human milk, is recommended for the first 2 weeks of life of full-term newborns, as well for infants with hyperphosphatemic renal failure.

Calcium↗
PubMed1990

Acute mastoiditis: clinical, microbiological, and therapeutic aspects.

The charts of 73 children (31 girls, 42 boys) aged 4 months to 14 years (mean 4.5 years) with acute mastoiditis managed during a 16-year period were reviewed. Of the patients 36% were less than 24 months old. Retro-auricular swelling was described in 63 of the 73 children, tenderness in 59, erythema in 58, and protrusion of the auricle in 45. A pathological tympanic membrane was noted in 33% of the patients and fever in only 29%. Apart from local inflammation, the most frequent complaints and symptoms were otalgia (n = 42), recent upper respiratory tract infections (n = 22), and fever alone (n = 22). A subperiosteal abscess was found in 36 patients, and CNS involvement in 5. Nearly half of the patients (48%) were on antibiotic therapy at admission. The isolation rates in bacterial cultures from subperiosteal aspirated (81%) and from mastoid mucosa (68%) were considerably higher than from blood cultures (14%) and were not influenced by previously administered antibiotics. Pneumococci (9/32) and Staphylococcus epidermidis (6/32) were the agents most often isolated. The incidence of the bacteria isolated from patients pre-treated with antibiotics differed from the incidence in patients not previously treated. In 24 patients (33%) the lesion healed with antibiotic therapy without mastoid surgery. Myringotomy and the insertion of a ventilation tube is indicated initially, if acute otitis media with effusion is found. In the absence of a subperiosteal abscess and of CNS involvement, a 48-hour trial of intravenous antibiotic therapy, directed also against staphylococci, is justified before mastoid surgery is considered.

Abscess↗
PubMed1989

Immunological evaluation in the early diagnosis of prenatal or perinatal HIV infection.

A longitudinal evaluation was carried out of the clinical, infective, and immunological progress of 34 children (who were aged 6 to 68 months--mean 25 months at the time of writing) born to 31 mothers infected with human immunodeficiency virus (HIV), over a mean observation period of 13.4 months. Clinical symptoms, not always clearly related to HIV became apparent in 11 children, and preceding immune abnormalities were documented in two of them. In eight children culture for HIV was positive, and six of these were symptomatic. No cancers were diagnosed and none of the children died. Immune abnormalities including hypergammaglobulinaemia, IgG subclass deficiency, low serum IgA concentration, antibody deficiency, a decrease in the number of CD4+(T helper) cells, and defective cellular responses to antigens, were found in seven of the children in whom culture for HIV was positive; in two of four who had symptoms and in all four who were symptom free and in whom culture was negative for HIV but in whom HIV antibodies persisted and who were older than 15 months; and in three of nine who were symptom free and in whom culture was negative with loss of HIV antibodies. We conclude that serological diagnosis alone may be misleading and that additional immunological assessment may help to identify affected children. Analysis of humoral and cellular responses to antigens used for vaccination such as tetanus toxoid by measurement of specific antibodies and skin testing are simple and helpful in clinical practice.

Acquired Immunodeficiency Syndrome↗
PubMed1988

[Magnetic resonance in pediatric research and clinical practice. I. What can we expect from this new method?].

Nuclear Magnetic Resonance (NMR) was first observed over 40 years ago and has recently also entered the field of human medicine. It currently attracts increasing attention from biologists and clinicians alike, and the scope of its different applications is in a phase of explosive development. Two principle developments of the MR method are taking place over the recent years and are of special interest for pediatricians and neonatologists. One involves the possibility of obtaining images from any part of the human body, somewhat similar to those obtained with computer tomography (CT), but without any radiation hazard. Today clinicians are most familiar with this mode of MR application. The other development tries to adapt the MR method of elucidating the structure of molecules used in physics, molecular biology and organic chemistry for applications in medicine, allowing to study metabolism in vivo under non-invasive conditions. Again, such studies pose no health hazards and are, therefore, applicable to neonates and small infants. They will enhance our understanding of metabolic processes during normal development and disease, especially in organs like the brain, where biopsies are virtually impossible. Recent developments combine the two methods mentioned above, in order to obtain morphological as well as metabolic information from the same organ at the same time, which may provide even better insight into pathophysiological mechanisms and their response to therapeutic measures. This article attempts to give an overview to the medical researcher, the clinician, and especially the pediatrician and neonatologist of what MR is and what we can expect from it.

Brain↗
PubMed1987

New aspects of infantile oxalosis.

Infantile oxalosis is the most severe form of primary hyperoxaluria type I (PH I). Only 28 patients have been reported in detail; it was found that diagnosis was usually delayed, and most patients presented before the age of 4 months in renal failure and died within the 1st year of life. This report comprises two infants in whom diagnosis of PH I was made in the first few weeks of life before renal function was impaired. Case 1, whose brother had died of infantile oxalosis, already had greatly increased urinary oxalate and glycolate excretion at 7 days of age. In Case 2, PH I was diagnosed early because of the finding of increased renal echogenicity at 3 weeks of age; this patient had numerous episodes of stone formation despite continuous treatment with pyridoxine, but maintained renal function with normal serum creatinine levels at the age of 28 months. Prenatal diagnosis was attempted in case 1; however, amniotic fluid oxalate and glycolate concentrations were normal, suggesting that these acids pass the placenta and are not retained. The recent discovery of a transamination defect (deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase) explains why some patients respond to pyridoxine treatment. Differences in onset and severity of PH I and in response to pyridoxine suggest that this disorder is biochemically and genetically heterogeneous.

Adolescent↗
PubMed1987

[Hemihypertrophy in a boy with polycystic kidney].

Ultrasonographic and radiological examination of a male newborn with a mass in the left lumbar region revealed bilateral polycystic kidneys. At the age of 6 months, a moderate hemihypertrophy of the left side was detected and confirmed with 2 1/2 years. Growth, development and renal functions are normal. The association of hemihypertrophy with nephroblastoma is well known, with polycystic kidneys, however, very rare.

Growth Disorders↗
PubMed1987

[Diagnostic results of pediatric-child psychiatric cooperation exemplified by the Pediatric Clinic of the Winterthur Canton Hospital 1971-1980].

This article reports on the diagnostic results of 232 patients who were examined in close collaboration by the paediatrician and the child psychiatrist at a Swiss children's hospital between 1971 and 1980. The main diagnosis was psychogenic disorders with mainly psychic symptoms in 53.9% of the cases, psychogenic disorders with mainly somatic symptoms in 37.1%, minimal brain damage in 11.2%, and disturbances of development in 8.6%. Psychosomatic symptoms as accessory findings were found in another 30%. Thus, functional somatic disorders were components of the polysymptomatic syndromes in more than 60% of the patients.

Child↗
PubMed1986

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.

Two families with X-linked dominant hypophosphatemia (McKusick No. *30780) were investigated for linkage of the disease locus with several marker genes defined by cloned, single-copy DNA sequences derived from defined regions of the X chromosome. Close linkage was found with DNA markers DXS41 (p99-6) and DXS43 (pD2) at Xp22, suggesting a location of the HPDR gene on the distal short arm of the X chromosome.

Chromosome Mapping↗
PubMed1986

Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one.

We report three unrelated patients with Kenny syndrome. Clinical symptoms included severe dwarfism, with internal cortical thickening and medullary stenosis of the tubular bones, normal bone age, macrocephaly, absent diploic space, delayed closure of the anterior fontanel, and normal intelligence; two of the patients had hyperopia and papillary edema. The patients also had episodic hypocalcemic tetany and low serum levels of magnesium. In two patients the diagnosis of idiopathic hypoparathyroidism was established on the basis of undetectable serum parathyroid hormone (PTH) levels (N- and C-terminal RIAs); one of these had normal urinary cyclic adenosine monophosphate (cAMP) response to exogenous PTH. Circulating calcitonin was undetectable in either patient. In a third patient, who had abnormal body proportions, serum levels of PTH were increased in an RIA detecting predominantly intact PTH (N-RIA) and undetectable in another RIA recognizing carboxy-terminal fragments (C-RIA). Administration of PTH promptly increased urinary cAMP excretion. In this patient, serum levels of calcitonin were increased, whereas values for 25-OHD and 1,25(OH)2D were normal.

Abnormalities, Multiple↗
PubMed1986

[Cardiac rhabdomyoma in familial tuberous sclerosis].

Case report of a previously healthy girl who presented at the age of 9 months a paroxysmal supraventricular tachycardia. Echocardiography revealed multiple cardiac tumors. The detection of a few hardly visible unpigmented patches of skin allowed the diagnosis of tuberous sclerosis with cardiac rhabdomyomas. Computerised tomography of the brain showed typical calcifications and multiple hypodense parenchymal lesions. In the further course of the disease, progressive multifocal epilepsy and severe retardation of psychomotor development occurred, angiofibromas appeared on the face, and a suspected angiomyolipoma on renal sonography. A very mild form of this autosomal dominant phacomatosis could be detected in the patient's mother. As cardiac rhabdomyomas and tuberous sclerosis are frequently associated, investigations for both these findings with modern methods of body imaging are recommended in order to allow early diagnosis and genetic counselling.

Echocardiography↗
PubMed1986

[Malignant atrophic papulosis (Degos' syndrome) in a suckling infant].

The clinical and histological diagnosis of Degos' syndrome could be made in a 8-month-old infant with scarring skin lesions. Some weeks later the baby developed severe intestinal symptoms and died from perforations of multiple necrotic lesions of the small bowel. Autopsy revealed in addition to the skin and gut lesions a haemorrhagic cortical infarction of the brain and fibrotic areas in the myocardium. In all these lesions characteristic stenotic endovascular proliferations were seen. Malignant atrophic papulosis is an extremely rare disease in infancy (our patient is the fifth reported case) with a well defined clinical picture, characteristic histological appearance of obliterating vasculitis, but unknown aetiology.

Humans↗
PubMed1984

Outcome of pediatric patients with end-stage renal disease in Switzerland 1973-1982.

The annual incidence of end-stage renal disease (ESRD: 1.32 patients aged 1/2-16 years per million population or 6.5 per million children of same age) and the causes have remained remarkably constant over the last 15 years in Switzerland. 58 patients (69%) were treated by dialysis and/or renal transplantation. The overall survival rate was 77% at 5 years and 65% at 10 years. 26 untreated patients (31%) died of uremia. They had not been treated despite existing facilities for the following reasons: Young age (7 of the 8 patients being less than 2 years old), psychosocial reasons (6), severe mental retardation (6) and associated problems (6). It is estimated that even in the future 20% of all pediatric patients with ESRD will be considered unsuitable for therapy by dialysis and renal transplantation.

Adolescent↗
PubMed1983

Early history of familial hypophosphataemic vitamin D-resistant rickets. Report of three cases observed since birth.

Three patients with familial hypophosphataemic vitamin D-resistant rickets (FHR) born to affected mothers have been clinically, radiologically and biochemically observed since birth. The value of the different early diagnostic signs is evaluated, and the efficiency of early phosphate and vitamin D treatment is discussed. Our observations suggest the following conclusions: Infants of FHR affected mothers can be diagnosed as having the disease by careful physical examinations and by a pathological increase of serum alkaline phosphatase with normal serum calcium, before radiological signs of rickets occur. The serum phosphate concentrations in early infancy are variable and of little or no diagnostic help. Early treatment is useful to cure or even to avoid rickets and to normalize serum alkaline phosphatase, but not hypophosphataemia. In spite of some favorable results, the influence of early started treatment on growth and leg deformities is difficult to assess due to the variations of individual expressivity of the disease.

Alkaline Phosphatase↗
PubMed1983

[Calcium homeostasis in the newborn infant].

The Calcium homeostasis in the perinatal period depends on the changes of the Calcium balance and on the influence of the three Calcium-regulating hormones parathyroid hormone, Calcitonin and 1,25-Dihydroxycholecalciferol. The most common disorder is neonatal hypocalcemia which occurs either as early type (frequent, mainly in prematures) or as late type (rare, probably due to transient hypoparathyroidism).

Birth Weight↗