Issa Hazza

Hypercalcemia, hypercalciuria and nephrocalcinosis in a breast-fed term newborn: a rare presentation.

Although hypercalcemia and hypercalciuria are known to occur in breast-fed pre-term infants, to the best of our knowledge, it has never been reported in a term baby previously. We report a term male baby who was followed-up during pregnancy for having bright kidneys, but a follow-up renal ultrasound (US) after birth had revealed normal scan. Laboratory investigations revealed normal serum calcium (Ca), phosphorous (PO₄) and alkaline phosphatase (ALP). The baby was being fed by breast milk. Follow-up US two months later showed early nephrocalcinosis along with hypercalcemia and hypercalciuria; by the age of three months, nephrocalcinosis was more extensive and the serum Ca level was more than 12 mg/L with hypercalciuria. Parathyroid hormone (PTH), phosphorous (PO₄), ALP and thyroid function tests were all normal. Antenatal history revealed a hypothyroid mother who was maintained on L-thyroxin, calcium and vitamin D supplement during pregnancy. Her blood tests showed normal serum Ca, low PO₄ and elevated PTH. The baby was diagnosed to have hypercalciuria and hypercalcemia secondary to maternal hypophosphatemia (maternal vitamin D deficiency). Breast feeding was stopped and the baby was started on formula, whereby he showed remarkable improvement both for his blood chemistry as well as his hypercalciuria.

Original articleMolecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosisAnálisis molecular del gen CTNS en familias jordanas afectadas por cistinosis nefropática

OBJECTIVE Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic cystinosis. METHODS Probands initially presented with Fanconi syndrome symptoms. An eye examination showed the accumulation of cystine crystals in the cornea by the age of 2 years, suggesting cystinosis. All of the coding exons and flanking intronic sequences and the promoter region of the CTNS gene were amplified using polymerase chain reaction and subjected to sequencing. RESULTS None of the probands in this study carried the European 57-kb deletion in the CTNS gene. Seven variants in the coding and promoter sequence of the CTNS gene were identified in the probands of this study. Two of these variants were a CTNS mutation that was previously identified in a heterozygous genotype in two different patients of European descendant. The two mutations were c.829dupA in exon 10 and c.890G>A in exon 11. The proband of family 2 was compound-heterozygous for the two mutations. CONCLUSION This study is the first molecular study of infantile nephropathic cystinosis in Jordan. We successfully identified the causative CTNS mutations in Jordanian families. The results provide a basis for the early detection of the disease using molecular tools in a highly consanguineous Jordanian population.

Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis

OBJECTIVE Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder that is characterised by the accumulation of the amino acid cystine in several body tissues due to a mutation in the CTNS gene, which encodes the cystinosin protein. The aim of this study was to sequence the coding exons of the CTNS gene in five different Jordanian families and one family from Sudan with nephropathic cystinosis. METHODS Probands initially presented with Fanconi syndrome symptoms. An eye examination showed the accumulation of cystine crystals in the cornea by the age of 2 years, suggesting cystinosis. All of the coding exons and flanking intronic sequences and the promoter region of the CTNS gene were amplified using polymerase chain reaction and subjected to sequencing. RESULTS None of the probands in this study carried the European 57-kb deletion in the CTNS gene. Seven variants in the coding and promoter sequence of the CTNS gene were identified in the probands of this study. Two of these variants were a CTNS mutation that was previously identified in a heterozygous genotype in two different patients of European descendant. The two mutations were c.829dupA in exon 10 and c.890G>A in exon 11. The proband of family 2 was compound-heterozygous for the two mutations. CONCLUSION This study is the first molecular study of infantile nephropathic cystinosis in Jordan. We successfully identified the causative CTNS mutations in Jordanian families. The results provide a basis for the early detection of the disease using molecular tools in a highly consanguineous Jordanian population.

Pediatric renal transplantation: Jordan's experience.

To evaluate our experience with pediatric renal transplantation at King Hussein Medical Center, the medical records of 71 pediatric patients who underwent a renal transplantation procedure between the years 2004 and 2010 or started follow-up at our center within one week of transplantation done elsewhere were reviewed. Over the seven-year period, 71 children under the age of 14 years who received their first renal transplant were studied. About 56% (40) were males. The mean age was 9.44 ± 2.86 years. Dysplastic kidney was the most common cause of end-stage renal failure in our group, followed by glomerulonephritis. Mothers were the donors in 39.4% of the cases, followed by fathers. Twenty-three patients (32.4%) were transplanted preemptively. The overall one-year graft survival was 96%, three-year survival was 95%, and the five-year survival was 88%. Prednisone, tacrolimus, and mycophenolate mofetil formed the main-stay of immunosuppressive agents. We have developed a successful live donor program for renal transplantation in children at King Hussein Medical Center in Amman. Although our experience is still short, the graft survival is similar to that achieved in the developed world, especially with preemptive transplant.

Pediatric nephrology practice in Jordan

The practice of pediatric nephrology in a developing country such as Jordan is governed by social, cultural, and economic issues. The prevalence of consanguinity contributes to the emergence of rare heredofamilial disorders and congenital anomalies of the kidneys and urinary tract. Epigenetic factors modify underlying genetic defect predisposing to symptomatic crystalluria. Future research should be directed at prevention.

Vesicoureteric Reflux in Children: a 13-years experience

Objective: We review our thirteen year’s experience (1997 and 2009) with surgical treatment of vesicoureteric reflux (VUR) at King Hussein medical center, pediatric surgery section. Methods: All files of patients who underwent intravesical cross-trigonal uretric reimplantation for VUR, between January1997 and December2009 in our hospital were reviewed. Demographic details, reflux grade, bilaterality, radiological investigations, surgical approach and outcome were analyzed. Results: 334 patients with VUR (grade II to V) underwent uretric reimplantation during the study period. 47.6% of the patients were males and 52.4% were female. The patients were between two and a half months to fourteen years of age. 11.7% were less than one year of age and 61% < 5years. 294 (88%) of the patients were classified as primary VUR and 40(12%) as secondary. The duration of follow up was from 8 months to 13 years. Persistent VUR requiring re-do ureteral reimplantation in 18 (5.4%) cases, and nephrectomy due to end- stage renal disease (ESRD) were performed in 33 (9.8%) patients. Successful rate was achieved in 90.2% of cases. Conclusions: The most frequent clinical abnormality leading to the diagnosis of VUR is UTI; the ultimate objective of treatment of VUR is to prevent infection, to allow normal growth and to prevent permanent renal parenchyma damage

The Changing Spectrum of end Stage Renal Disease at Queen Rania Al-Abdullah II Hospital of Pediatrics

Objective: End stage Renal Disease is a rare condition in children. It is usually the result of slowly progressive irreversible kidney damage. The aim of this study is to determine the causes, outcome and describe the demographic features of all children with end stage renal disease on regular dialysis at Queen Rania Al-Abdullah II Hospital of Paediatrics. This is the referral centre for all pediatric subspecialties in Jordan. Methods: A retrospective review of all computerized data for all children with end stage renal disease who were on regular dialysis at Queen Rania Hospital during the period January 2006 to April 2011 were done. The data was reviewed regarding gender, age at the initiation of dialysis, mode of dialysis and primary disease. The outcome of these children was also followed and reviewed. Results: Out of 98 children who were on regular dialysis at Queen Rania Hospital, 90 (92%) were on hemodialysis and eight (8%) were on peritoneal dialysis, 53 (54%) were female, 45 (46%) were male. The mean age at the initiation of dialysis was 8.2±2.3 years; the commonest cause of end stage renal disease was congenital anomalies of the kidney and urinary tract which occurred in 34 (34.5%) children. However unknown causes were found in four cases (4%). Thirty-nine children (39.5%) were transplanted and 25 (25.5%) children died while they were on dialysis. Conclusions: The most common cause of end stage renal disease at our center was congenital anomalies of the kidney and urinary tract, which is a preventable cause when detected early. The increased percentage of renal transplants observed among patients with end stage renal disease on regular dialysis at our centre is promising as it offers the best choice of renal replacement therapy.