patient with cystinosis presenting like bartter syndrome and review of literature

Nephropathic cystinosis is an autosomal recessively inherited metabolic disorder presenting with metabolic acidosis, Fanconi syndrome and renal failure. We present a 6-year-old girl with severe growth failure, hyponatremia and hypokalemia. Her parents were 4th degree relatives. Two relatives were diagnosed as end stage renal failure. She also had persistant hypokalemic hypochloremic metabolic alkalosis. Her renal function was normal at presentation. She was thought to have Bartter syndrome with supporting findings of elevated levels of renin and aldosterone with normal blood pressure, and hyperplasia of juxtaglomerular apparatus. Her metabolic alkalosis did not resolve despite supportive treatment. At 6[th] month of follow-up proteinuria, glucosuria and deterioration of renal function developed. Diagnosis of cystinosis was made with slit lamp examination and leukocyte cystine levels. At 12[th] month of follow-up her metabolic alkalosis has converted to metabolic acidosis. In children presenting with persistant metabolic alkalosis, with family history of renal failure, and parental consanguinity, cystinosis should always be kept in mind as this disease is an important cause of end stage renal failure which may have features mimmicking Bartter syndrome

Hypohidrotic Ectodermal Dysplasia Associated with Glucose-6-Phosphate Dehydrogenase Deficiency

Hypohidrotic ectodermal dysplasia (HED) is a syndrome characterized by hypodontia, hypotrichosis, and partial or total ecrine sweat gland deficiency. The most prevalent form of HED is inherited as an X linked pattern. Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is an X-linked recessive disease, which leads to hemolytic anemia and jaundice. It is expressed in males, while heterozygous females are usually clinically normal. A 12-year-old boy with the complaints of hair and eyebrow disturbances, teeth disfigurement, decreased sweating, and xerosis presented to the outpatient clinic. Dermatological examination revealed sparse hair and eyebrows, conical-shaped teeth, xerosis, syndactylia, transverse grooves, and discoloration of nails. Laboratory findings indicated anemia. His 3-year-old sister also had sparse hair and eyebrows, xerosis, and syndactylia. We learned that the patient had a previous history of neonatal jaundice and a diagnosis of G-6-PD deficiency. Although it has been shown that loci of ectodermal dysplasia and G-6-PD deficiency genes are near to one another, we did not find any case study reporting on occurrence of these two genetic diseases together. With the aspect of this rare and interesting case, the relationship between HED and G-6-PD deficiency was defined.

case of Henoch-Schonlein purpura with P369S mutation in MEFV gene

Henoch-Schonlein purpura [HSP] is the most common vasculitis of childhood. HSP can affect multiple organs presenting with a characteristic rash in most of the patients. Familial Mediterranean Fever [FMF] is an inherited inflammatory disease common in mediterranean populations. HSP is the most common vasculitis seen in children with FMF. A 16 year old boy was referred with history of abdominal pain lasting for 20 days. He was hospitalized and had appendectomy. Due to the persistence of his abdominal pain after surgery he was admitted to our hospital. His physical examination showed palpable purpuric rashes symmetrically distributed on lower extremities. Abdominal examination revealed periumbilical tenderness. Laboratory tests showed elevated erythrocyte sedimentation rate, C-reactive protein and fibrinogen. Urinalysis revealed microscopic hematuria and severe proteinuria. The fecal occult blood testing was positive. Based on these clinic findings, the patient was diagnosed as HSP with renal, gastrointestinal tract and skin involvement. We performed DNA analysis in our patient because he had diagnosis of vasculitis with severe symptoms and found that he was carrying heterozygote P369S mutation. Our case is noteworthy as it indicates that it may be important not to overlook presence of FMF mutations in patients with a diagnosis of severe vasculitis

Pediatric ureteroceles: diagnosis, management and treatment options

The aim of the study was to evaluate clinical characteristics of ureteroceles particularly for diagnostic and treatment challenges. Data about patients treated for ureterocele in the two hospital clinics during 1996-2009 are retrospectively evaluated. There were 12 girls and 7 boys. Symptomatic urinary tract infection was found in twelve cases. Ureterocele was associated with duplex systems in eleven cases. Vesicoureteral reflux was detected in 4 patients. Bladder diverticulum complicated with ureterocele in 1 patient. Ultrasonography diagnosed ureterocele in 12 patients. Renal scarring was detected in 6 patients at the side of ureterocele. Fifteen patients showed varying degrees of hydro-ureteronephrosis. Surgical therapy included upper pole nephrectomy in 3 cases. Bladder level reconstruction was performed in 11 cases. Five patients were treated only by endoscopic incision. In the follow up period 4 patients showed long term urinary tract infections whereas 3 of them were treated endoscopically. Postoperative reflux was still present in two patients who were treated by endoscopic incision. Ureterocele diagnosis and treatment show challenges. Urinary tract infection is important marker for urinary system evaluation. Preoperative management generally depends on a combination of diagnostic methods. Endoscopic incision needs serious follow up for postoperative problems

Association of FAS-670 A/G and FASL- 843 C/T gene polymorphisms on allograft nephropathy in pediatric renal transplant patients

FAS and FASL polymorphisms are suggested to play an important role in tubulitis that is a major component of acute rejection. The aim of this study was to investigate the role of FAS-670A/G and FASL-843C/T gene polymorphisms on allograft nephropathy in pediatric renal transplant patients. Fifty three patients [22 males 31 females] aged 2 to 20 years [mean 12.3 +/- 0.6] who had renal transplantation and fifty healthy control subjects [25 males 25 females] were enrolled in the study. Pearsons' Chi Square test was used for the statistical analysis. Survival rates were estimated with the Kaplan Meier method. Age, sex, chronic renal failure etiology, treatment modality and duration and donor type were recorded. FAS-670 A/G and FASL-843C/T gene polymorphisms were compared between renal transplant patients and normal healthy population as well as between renal transplant patients with and without acute rejection. FAS-670A/G genotypes or alleles were not significantly different between control and transplant patients and among transplant patients with and without acute rejection [P<0.005 for all]. FASL-843C/T genotypes and alleles were not different between transplantation and control groups [P>0.05 for all]. However, FASL-843C/T alleles were significantly different between patients with and without AR [P=0.02]. The percentages of C allele were higher in children with acute rejection [68.8% vs 44.6%]. FASL gene polymorphisms may play a major role in acute rejection while FAS polymorphisms have not been found to be different between patients with and without acute renal graft rejection

Childhood pityriasis rosea inversa without herald patch mimicking cutaneous mastocytosis

Pityriasis rosea is a self-limited inflammatory condition of the skin that mostly affects young adults. Several less common atypical presentations have been reported. A 6-year old girl with red-brown maculopapular eruption sized 0, 5-1 cm in diameter localized on neck, trunk and popliteal region visited our general pediatric outpatient clinic. The eruption was wide spread especially on flexural areas. After consulting dermatologist skin biopsy was performed. According to clinical and histopathological findings as inverse [flexural] pityriasis rosea was diagnosed. For treatment, systemic antihistamine, topical corticosteroid cream and emollient were applied. The lesions healed in two months. Spontaneous healing of the eruption also confirmed the diagnosis of pityriasis rosea. We present this interesting pediatric case to show and discuss pityriasis rosea, atypical presentations, differential diagnosis and the importance of dermatological examination and importance of dermatologic consultation for pediatric patients with skin eruption