Growth and puberty in thalassemia major Raiola, G; Galati, M C; De Sanctis, V ...
Journal of pediatric endocrinology & metabolism : JPEM,
03/2003, Letnik:
16 Suppl 2
Journal Article
Recenzirano
Present transfusional regimen protocols increase the life expectancy of patients with beta-thalassemia major, but cause a progressive iron overload that can be prevented or limited only by ...appropriate iron chelation. Siderosis is responsible for the clinical complications of the disease. Short stature and hypogonadism are extremely frequent in patients with thalassemia. Many factors are responsible for short stature in patients with thalassemia, the most important of which are dysfunction of the GH-IGF-I axis and desferoxamine (DFX)-induced bone dysplasia. Hypogonadism is the most frequent endocrine complication, mostly due to gonadotrophins deficiency secondary to iron overload. Sex steroid treatment for induction of puberty and/or maintenance of sexual characteristics is necessary. Both short stature and hypogonadism are present in a significant percentage of bone marrow transplanted patients with thalassemia. Factors responsible for short stature are previous iron overload, liver impairment, DFX treatment, and toxicity of chemotherapeutic agents. In some patients absence of pubertal development is due to gonadotropin insufficiency, probably secondary to previous iron overload; other patients exhibit hypergonadotrophic hypogonadism due to the toxic effect of chemotherapeutic agents on the gonads. Both groups need hormonal replacement therapy. These data support the need for vigilant follow-up of patients with thalassemia before and after transplantation, in order to treat endocrine dysfunctions at the appropriate age.
Patients undergoing kidney transplantation demonstrate a higher risk of developing cancer as the result of immunosuppressive treatment and concurrent infections.
The incidence of cancer in a cohort ...of patients who underwent kidney transplantation between 1990 and 2000, and who survived the acute phase (10 days), was analyzed as part of the North Italy Transplant program.
A total of 3,521 patients underwent transplantation during a 10-year period in 10 of 13 participating centers; the length of follow-up after kidney transplant was 67.7+/-36.0 months. During the follow-up, 172 patients developed cancer (39 with Kaposi sarcoma, 38 with lymphoproliferative diseases, and 95 with carcinomas 17 kidney, 11 non-basal cell carcinoma of the skin, 10 colorectal, 8 breast, 7 gastric, 7 lung, 6 bladder, and 3 mesothelioma). The average time to cancer development after transplant was 40.1+/-33.4 months (range 0-134 months). Twenty-four patients developed cancer within 6 months from the transplant (10 with carcinomas, 7 with Kaposi sarcoma, and 7 with lymphoproliferative diseases). Three patients demonstrated a second primary cancer. The average cancer incidence was 4.9%. The incidence of cancer was 0.01 per year. Independent determinants of cancer development were age, gender, and immunosuppressive protocol including induction. Ten-year mortality was significantly higher in patients with cancer (33.1%) than among patients without cancer (5.3%). The relative risk of death in subjects with cancer was 5.5 (confidence interval 4.1-7.4).
These preliminary data underline the importance of long-term surveillance of transplant recipients, choice of immunosuppressive treatment, and careful donor selection.
: From June 1985 to December 1998, 173 pediatric renal transplants were carried out in 170 patients at our center. From this pool, 73 patients (34 males and 39 females) with a follow‐up of 48 months ...were examined. In all patients, ureteroneocystostomy was performed according to the Lich‐Grégoire procedure. All patients were treated with cyclosporin A (CsA)‐based immunosuppression, including prednisone and sometimes azathioprine (AZA). Six months after transplantation, voiding cystography (VCU) was performed in all patients and reflux was classified from Grade I to Grade IV. The patients were divided into two groups: those with reflux (Group A: 25 patients) and those without (Group B: 48 patients). Grade I reflux was found in four patients, Grade II in seven patients, Grade III in seven patients, and Grade IV in seven patients. All the patients with severe reflux (Grade IV) underwent a corrective surgical procedure. Both groups were examined for immunologic and non‐immunologic risk factors and no significant differences were found. Analysis of patient and graft survival rates revealed no statistical differences (NS) between Groups A and B. Mean serum creatinine (mg/dL) was 1.06 ± 0.28 and 1.12 ± 0.41 at 4 yr in Groups A and B, respectively (NS). Mean calculated creatinine clearance (cCrC; ml/min) was 76.74 ± 15.92 and 77.96 ± 15.66 in Groups A and B, respectively (NS). The analysis was further extended by considering the grade of reflux (I to IV). Again, no significant differences in the above parameters emerged between the reflux sub‐groups; only in the Grade IV sub‐group was a slight decrease in cCrC detected, although this difference was not statistically significant when compared with the other sub‐groups. In conclusion, vesico‐ureteral reflux (VUR) does not seem to negatively affect graft function. However, as all severe reflux patients (Grade IV) were surgically corrected, no conclusions can be drawn with regard to the influence of Grade IV reflux on long‐term graft function.
We retrospectively examined the effect of HLA-A, -B, and -DR serological matching on graft survival in 88 pediatric end-stage renal disease patients who underwent primary renal transplantation. ...Actuarial graft survivals (GS) at 2 and 6 years in patients with zero DR mismatches (MM) (12 patients) or 1 DR MM (58 patients) were significantly higher than those in patients with 2 DR MM (18 patients) (2-year GS: 100% vs. 90% vs. 59%; 6-year GS: 100% vs. 79% vs. 59%, respectively). Because of the low number of patients in the zero DR MM group, only the GS difference between 1 DR MM and 2 DR MM had a significant result at 1 year (92% vs. 68%). No clear HLA matching effect was obtained in the HLA-A and -B loci. When DR were combined with A or B antigens (0-2 MM vs. 3-4 MM), significantly higher GS at 1, 2, and 6 years persisted for patients with 0-2 MM only in the A, DR group (96%, 94%, and 85% vs. 68%, 63%, and 56%, respectively). It is suggested that avoidance of mismatching for DR alleles at the serological level, in the selection of pediatric recipients of first cadaveric renal transplantation, leads to an improvement of both short- and longterm graft outcome.
The Cri du Chat syndrome (SCdC / OMIM #123450) is a rare disease characterized by the deletion of the short arm of chromosome 5. The typical clinical features are the cat-like cry, microcephaly, a ...distinct facial phenotype and a severe psychomotor and mental retardation. The aim of this study was to provide an analysis on the data concerning the life quality and families assistance to whom have a child affected by Cri du Chat syndrome such as: the life's change of parents after the child's birth, the frequency of treatments, the collaboration between family and center of reference.
We have also analyzed the improvement obtained, the type of school attended, the aide and the time spent at home in postprimary education. Through a questionnaire sent to 100 families, we have been picked up information on 76 patients.
These families have to adapt to the reality of a child with a rare genetic disorder for which there are no pharmacological or surgical therapies.
Therefore, it seems important to give information and tips for dealing with the disease and the early start of rehabilitation and educational therapy.
In the early years of life, the angular deviation of knee causes anxiety in parents and alert to paediatricians. The problem is often an expression of physiological development of the lower limbs and ...correction occurs spontaneously. A small number of children has a true pathology, which can lead to functional problems, modification of the knee's axis and muscular-skeletal disorders. We analyzed the prevalence of pathological forms of varus-valgus knee and their association with lower limb dysmetria and scoliotic attitude.
We evaluated radiographies of the lower limbs of 60 calabrian children; we analyzed the mechanical axis of knee and articular spacing angles. We evaluated the X-ray of the spine with study of Cobb's angle and the gradient of the femoral head.
61.6% of children had a deflection angle of the knee: 6.7% physiological varus and 28.3% physiological valgus, 8.3% pathological varus and 18.3% pathological valgus. Mechanical axis deviation was: +15.6 degrees with articular spacing angle of about +2.4 degrees in pathological varus and +1.95 degrees with articular spacing angle of about -2.09 degrees in pathological valgus. 15% of children had pathological deviation and femoral head dysmetria (7.7 mm). 10% of children had association between pathological valgus/varus knee, dysmetria and scoliotic attitude ( 8.3% sacral-lumbar scoliotic attitude with Cobb's angle <20 degrees ).
Without alarm we must pay attention to varus/valgus knee, because probably it will be a physiological deviation. In the pathological condition, it is important to consider the association with the limbs dysmetria that can lead to irreversible scoliotic postural deviation, if ignored for a long time. Unlikely early diagnosis and a subsequent correction of these defects could assurance a good development of skeletal structure.
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