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Autosomal dominant polycystic kidney disease (ADKPD) is the most frequent type of polycystic kidney disease. It is inherited through family members, with an incidence of approximately 1:400 to1:1000.Typically, individuals with ADKPD are identified between their fourth and fifth decade of life. ADKPD occurs as a results of mutation in one of the two genes, PDK1 and PDK2.Patients with PKD1 experience renal failure at an earlier onset than those with PKD2. We report on a 2 year-old-boy with hepatosplenomegaly and signs of portal hypertension. Both kidneys appeared normal until the age of 8, when multiple cysts developed, this being typical of ADKPD. Suspecting ADKPD, we performed whole exome sequencing, thereby confirming a mutation of c.6730 673del p.(Ser 2244Hisfs*17). The investigations of all family members found other individuals affected by ADKPD.

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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.

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BACKGROUND: Arthrogryposis- renal tubular dysfunction - cholestasis (ARC) syndrome is a rare multisystem disorder originally described in 1973 and recently ascribed to mutation in VPS33 B whose product acts in intracellular trafficking. It exhibits wide clinical variability but the constipation isn't a characteristic clinical sign. CASE: This girl presented after birth severe contractures of legs. She was admitted at 30 days of age with poor feeding, cholestatic jaundice with normal GGT and failure to thrive . Also we have noted a severe acidosis (pH=7.2) associated with aminoaciduria and glucosuria. At second month of age the girl presented a severe ichtyosis, recurrent fever and constipation. Apart from treatment the constipation has persisted. The baby died of sepsis at 12 weeks of age. CONCLUSION: ARC syndrome exhibits notable clinical variability. Constipation has not been reported previously on the contrary diarrhea is a frequent clinical sign. Knowledge of this rare condition can benefit the practitioner as well as the patient.

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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.

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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.

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There have been very few reports dealing with liver failure related to hepatitis A in children. Moreover, the criteria usually used for selecting patients with fulminant hepatitis A for liver transplantation have not been evaluated in children. Therefore, the current study was conducted retrospectively in a single French urban pediatric liver transplantation center to serve as a reminder of the potential severity of hepatitis A in children and to identify predictors of outcome. Children were selected by chart review using a data base system and were grouped according to outcome for analyses purposes. Over a 15-year period, 24 children with hepatitis A showed evidence of liver failure, including 6 children who did not develop hepatic encephalopathy, 7 children in whom encephalopathy occurred but resolved spontaneously, and 11 children in whom death or liver transplantation was the outcome. The mean age at onset was 6.5 years. Those with the most rapid onset of liver failure from onset of jaundice had the best chance of recovery without developing encephalopathy. Otherwise, no predictive factors of outcome were found at onset of liver failure. Among the 18 children who developed encephalopathy, the best early prognostic indicator of a poor outcome irrespective of the grade of encephalopathy, appeared to be a prothrombin time level below 21% of normal combined with a serum bilirubin level above 400 micromol/L. Therefore, these two prognostic indicators may be helpful in deciding liver transplantation in children with hepatitis A-induced fulminant liver failure.

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There are 40 patients with Wilson's disease diagnosed in Albania; 24 were males and 16 females with an average age 18.8 +/- 8.47 years. The incidence rate was 1:75.000 and prevalence rate 1:148.000. According to clinical data, the Kayser-Fleischer ring was found in 75% of the cases, the neurologic in 60% and mental disturbances in 27.5%. The liver was damaged in all the cases of acute and chronic hepatitis or liver cirrhosis. In 35% signs of hypersplenism were seen. Comparing these data with a control group of 60 alcoholic or viral cirrhosis with hypersplenism, it was found that hypersplenism is encountered in younger ages (p < 0.0001). The platelets were lower in WD than in the control group (p < 0.05), but leucocytes were lower in the control group (p < 0.001). Portal hypertension was found in 42.5% of the cases. Six of these (35.3%) were complicated by gastrointestinal hemorrhage. In two twins the disease was accompanied with another congenital anomaly: genu valgum bilateralis. Two other patients had hypertrophy of the parotis gland, six patients had signs of acute haemolysis, accompanied by nonspherocytic anemia, Coombs negative.

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