Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family.

Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in GBA. Its wide clinical spectrum, ranging from mild organomegaly to significant skeletal and neurological involvement, is partially explained by genotype-phenotype correlations. We present a family, in which all members over two generations presented with at least splenomegaly. Comprehensive clinical, biochemical and genetic workup was required to diagnose GD, which is caused by as many as four distinct GBA genotypes.

The Approach to Tetanic Hypocalcemia Caused by Vitamin D Deficiency.

Recently studies have shown that over half of infants, children and teenagers may be inadequately supplemented. A high prevalence of vitamin D deficiency in children has been observed worldwide, even in sunny countries. Regardless of the recommendations, vitamin D supplementation is sometimes underestimated, supporting the idea that for children in sunny country it is unnecessary. In the modern area of supplementation, tetany seems to be a problem of the past. Usually it occurs at 3 to 6 months of age, that's why diagnostic suspicion may be low after this age. We report a case of severe hypocalcemia presented with tetany, in an18-months-old child with severe vitamin D deficiency, because of not receiving vitamin D as supplementation. With underestimation of vitamin D supplementation, tetany may emerge again. Through our report we aim to highlight the aggressive approach to tetanic hypocalcemia in children with vitamin D deficiency and to sensitize a rigorous surveillance in order to ensure adequate vitamin D supplementation by pregnant, breastfeeding mothers, children and adolescents.

Pattern and Frequency of Short Stature in Albanian Children.

INTRODUCTION: Short stature is defined as a standing height more than 2 standard deviations (SDs) below the mean for age and sex. While there are many medical causes for being short and having poor growth, including growth hormone deficiency, hypothyroidism, Turner syndrome, inflammatory bowel disease, kidney problems, malnutrition, etc., most children who are short are normal. OBJECTIVES: The identification and analysis of causes and factors leading to short stature in Albanian children. PATIENTS & METHODS: Subjects enrolled in our study were admission with "Short stature" or "Slow growth velocity" from January 2001 to January 2011 and met the criteria: length < -2 z- score and/or height velocity <-2 z- score for age and sex. They were evaluated by anthropometric measurements; biochemical panel; hormonal balance; radiological studies; and hormonal provocative tests. Statistical processing was done with Epi-Info CDC 2000 and SPSS accordingly. RESULTS: The age of the 564 children was from 0.65-18.74 years (11.08 ± 3.28 years). M / F: 221/343 (39% /61%) respectively. The frequency of diagnoses resulted as follows: the "constitutional short stature" 211children (37.4%), "GH deficit" 155(27.5%), "genetic syndrome" 67(11.9%), "familiar short stature" 38(6.7%), "others pathology" 38(6.7%), "idiopathic short stature" 31(5.5%), "i-uterine short stature" 16(2.8%). CONCLUSIONS: The fact that 46% of the explored children resulted positive in terms of a pathology that had caused primary or secondary growth failure, makes it necessity careful monitoring of growth and reference of the children to a specialist as fast as possible. Evidently great age of exploration indicates a weak surveillance on growth monitoring in Albania. RECOMMENDATIONS: Assessment of the child's growth must be a routine procedure. The early identification of stature growth delay will significantly increase the early detection of any pathology.

Final Height in Children with Idiopathic Growth Hormone Deficiency treated with Growth Hormone: Albanian experience.

Objective- To evaluate the efficiency of recombinant growth hormone for increasing adult height in children treated for idiopathic growth hormone deficiency and to evaluate the prognostic factor for height at the end of treatment. Design- Observational follow up study. Setting- Population based registry. Participants- All Albanian children diagnosed with idiopathic growth hormone deficiency who had attained final height. Their treatment started between 2001 and 2011. Main outcome measures- Annual changes in height, and change in height between the start of treatment and adulthood; the importance of the factors that influence on final height. Results- Adult height was obtained for 83 (55%) patients. The mean dose of growth hormone at start of treatment was 0.21 IU/kg/week for 29 patients and 0.24 IU/week for 54 patients. Height gain was 2.41±1.19 z-scores, resulting in an adult height of -1.98±1.12 z-score (girls, -2.05±1.27 z-score; boys, -1.95±1.20 z-score). Patients who completed the treatment gained 2.40±1.13 z-score of height in 4.0±2.0 years. Most of the variation in height gain was explained by regression towards the mean, patients' characteristics, and delay in starting puberty. Conclusion- Nearly all our patients with idiopathic growth hormone deficiency treated with growth hormone were able to achieve their genetic height potential. Despite starting treatment late, they managed to gain 2.40±1.13 HAZ score in height and the final height for majority of them (61.5%) was within the target height range. It was found that the final height had good correlation with the prediction height, HAZ score at beginning of treatment, change of HAZ score during the puberty, duration of treatment with GH, and pubertal stage at the start of therapy.

Graves' disease in Albanian children.

BACKGROUND: Graves' disease (GD) accounts for 10-15% of thyroid disorders in patients less than 18 years of age. It is the most common cause of thyrotoxicosis in children and accounts for at least 95% of cases in children. Pediatric Treatment of Graves' disease consists of anti-thyroid drugs, radioactive iodide and thyroidectomy but the optimal treatment of GD in children is still controversial. OBJECTIVE: To review treatment outcome of pediatric Graves' disease in Albania. MATERIAL AND METHOD: Descriptive review of 15 children with Graves' disease, diagnosed from Jan.2007 to Dec. 2013, at the Division of Pediatric Endocrinology, Department of Pediatrics, University Hospital Centre "Mother Teresa", Albania was performed. RESULTS: All patients, mean age 10.56 ± 3.37 years, (range 2.02-16.09 years) were presented with goiter and increased serum FT4, mean 39.80 ± 16.02 ng/mL, (range 21.0-74.70 ng/mL), serum FT3, mean 12.98 ± 3.45 pg/mL, (range 6.90 -17.90 pg/mL) and suppressed TSH levels, mean 0.02 ± 0.01 mUI/L, (range 0.01-0.05 mUI/L). Anti TSH Receptor were positive in 100% of patients mean value 6.51 ± 3.61 UI/mL (range 1.63 - 14.10 UI/mL). Anti-thyroglobulin and Anti-TPO antibodies were positive in 60% and 46.6% respectively. Clinical course of 15 patients after treatment with anti-thyroid drugs mainly MMI for 3.19 ± 1.48 (range 0.60 - 6.20) years is as follows: seven (46.66%) underwent remission, five out of seven (71.41%) who underwent remission, relapsed. Three of them (20%) were treated with I(131), and two (13.3%) underwent to total thyroidectomy. CONCLUSION: MMI was the most common first line therapy in the presented patients with Graves' disease. Remission rate was 46.66% after an average 1.48 ± 0.71 years (range 0.60 - 2.70 years) of treatment with anti-thyroid drugs. Remission period was 2.70 ± 0.36 years (2.1 - 3.1 years) Relapse occurred in 71.41% of patient. I(131) and thyroidectomy were used as second line therapy in the present study.