Manel Jellouli

Primary hyperoxaluria in infants.

The infantile form of primary hyperoxaluria type-1 (PH-1) is characterized by a rapid progression to the end-stage renal disease (ESRD) due to both increased oxalate load and reduced glomerular filtration rate. In the literature, data on this form are limited. The purpose of this study is to analyze retrospectively the clinical, biological, and radiological features of children who were diagnosed with PH-1 during the 1(st) year of life. We reviewed the records of all children with PH-1 diagnosed and followed-up at our department between January 1995 and December 2013. Among them, only infants younger than 12 months of age were retrospectively enrolled in the study. Fourteen infants with the median age of two months were enrolled in the study. At diagnosis, 11 patients had ESRD. All patients had nephrocalcinosis and two of them had calculi. The diagnosis was established in nine patients on the basis of the positive family history of PH-1, bilateral nephrocalcinosis, and quantitative crystalluria. In four patients, the diagnosis was made with molecular analysis of DNA. Kidney biopsy contributed to the diagnosis in one patient. During follow-up, two patients were pyridoxine sensitive and preserved renal function. Seven among 11 patients who had ESRD died, four patients are currently undergoing peritoneal dialysis. Children with infantile PH and ESRD are at high risk of early death. Peritoneal dialysis is not a treatment of choice. Combined liver-kidney transplantation is mandatory.

Rituximab in The Management of Pediatric Steroid-Resistant Nephrotic Syndrome: A Systematic Review

Objectives To evaluate the efficacy and safety of rituximab in children with steroid‐resistant nephrotic syndrome. Study design A systematic review evaluating the efficacy and safety of rituximab in children with steroid‐resistant nephrotic syndrome was performed. Data from studies, performed before April 2017 were collected, from MEDLINE, Cochrane Library, Scopus, and Web of Science. Study eligibility criteria included clinical trials and observational studies with a minimal sample size of 5 patients, regarding treatment with rituximab in children with steroid‐resistant nephrotic syndrome. Independent extraction of articles by 2 investigators using predefined data fields was performed. Results We included 7 case series and 1 open‐label randomized controlled trial. Among them, 3 studies were multicenter. A total of 226 patients were included. Mean age at onset was 5.6 ± 1.1 years. Mean number of rituximab administrations was 3.1 ± 1.1 infusions per patient. Remission was observed in 89 patients (46.4%). Remission was seen in 40.8% patients with initial steroid‐resistant nephrotic syndrome and 52.8% patients with late steroid‐resistant nephrotic syndrome. Good initial response to rituximab therapy was observed in 63.2% patients with minimal change nephrotic syndrome, 39.2% patients with focal and segmental glomerulosclerosis, 1 patient had diffuse mesangial hypercellularity, and 1 patient had IgM nephropathy. Sustained remission ranged from 18% to 93.7%. Five serious adverse events were observed. Conclusions Rituximab exhibited a satisfactory profile regarding efficacy and safety indicating that this agent is a promising therapy for steroid‐resistant nephrotic syndrome and should be further investigated by randomized clinical trials.

Infantile cystinosis: From dialysis to renal transplantation

Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra-renal manifestations. In this report, we present the first case of transplanted nephropathic cystinosis in a Tunisian child. A 4-year-old Tunisian boy born to nonconsanguineous parents, was treated in our medical services in 1990 for cystinosis. Since the age of five months, he developed symptoms of severe weight loss, vomiting, dehydration, and polyuria. He manifested the Toni Debré Fanconi syndrome. Slit lamp examination of the anterior segment of both eyes revealed fine, shiny crystal-like deposits diffusely distributed in the corneal epithelium and the stroma. Our patient had renal failure. At the age of seven, he reached terminal chronic renal failure and was treated with peritoneal dialysis. Hemodialysis was started at the age of nine years. At the age of 13 years, he received a renal transplantation and was started on cysteamine 1999, five months after the renal transplantation. Currently, the patient is 28-year-old. The graft has survived 15 years after the transplantation. Renal functions were stable with a serum creatinine of 123 μmol/L at last follow-up.

Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report

Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome.

Le syndrome de Senior Loken

The etiology of ESRD under the age of 20 almost is the inherited kidney disease or congenital disorders of urinary tract. NPHP/ medullary cystic disease includes a group of tubulogenetic kidney disorders. NPHP is the cause of 15-20% ESRD in children and adolescents. The extra renal manifestations include: oculomotor Apraxia(Cogan syndrome), mental retardation, retinitis pigmentosa, (SeniorLoken syndrome) liver fibrosis and skeletal disorders. Recently, on the basis of genetics and type of the protein product of these mutations, NPHP is divided to 6 types. The presented case is a 17 year old boy with end stage renal disease that he has been managed with hemodialysis. As the patient has polyuria and disturbance in vision from childhood and on physical examination he had retinitis pigmentosa and horizontal nystagmus with a history of chronic kidney disease in his 12 years old sister, and familial marriage between his parents, we suggest NPHP4 for the patient.

Tuberculosis following kidney transplantation: report of paediatric case

Recipients of solid organ transplantation are, because of immunosuppressive therapy, at high risk to develop opportunistic infections including tuberculosis (TB). The incidence, clinical manifestations, and optimal diagnostic tests of this disease in this population have not been adequately defined. In this paper, we report a case of 13 year-old boy who developed pulmonary tuberculosis following a second renal transplantation from a deceased donor. The described case points diagnostic difficulties of the tuberculosis disease which are due to insidious and non specific clinical presentation. Also, the treatment is delicate because interaction between immunosuppressive drugs and antituberculosis drugs.

Syndrome de Poland

People with Poland syndrome are typically missing part of one of the major chest muscles, called the pectoralis major. In most affected individuals, the missing part is the large section of the muscle that normally runs from the upper arm to the breastbone (sternum). The abnormal pectoralis major muscle may cause the chest to appear concave. In some cases, additional muscles on the affected side of the torso, including muscles in the chest wall, side, and shoulder, may be missing or underdeveloped. There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement.

Hypoglycemia revealing arachnoidocele in infant.

Arachnoidocele is characterized by the herniation of the subarachnoid space within the sella turcica, associated with some degree of flattening of the pituitary gland. In children and adolescents, Arachnoidocele is rare, and the clinical picture is much less benign, with an increase in familial incidence, associated skeletal disorders, and endocrine abnormalities. OH was in infant admitted at the age of one month for respiratory symptoms. The examination on admission found an hypothermic infant with macroglossia, an anterior and posterior fontanelle wide, an umbilical hernia with growth retardation and normal cranial perimeter. Her height was 3200 g and her weight was 52 cm. The examination of others systems was unremarkable. She had central hypothyroidism (FT4 below 0.4 and TSH equal to 0.346). An exploration of the pituitary was requested, finding an achievement of the cortical axis revealed by the occurrence of multiple episodes of hypoglycemia with normal insulinemia and normal Adreno-Cortico-Trophic-Hormone with low cortisolemia (52 nmol/l). Growth stimulation tests were performed. Growth hormone levels were less than 10 ng/ml. A brain MRI was applied for a arachnoidocele intra-sellar repressing anterior pituitary with an anterior pituitary parenchyma very small without abnormality posterior pituitary or pituitary stalk.The patient was treated with hydrocortisone, levothyroxine and growth hormone replacement. The outcome was favorable without recourse to neurosurgery at the lack of damage to the optic nerve and the sphenoid bone, with a decline of five years otherwise the child has a delay in psychomotor acquisitions.