المؤلفون: Kim, Jon, Goodship, Tim, Tizard, Jane, Inward, Carol

المصدر: Pediatric Nephrology; Nov2011, Vol. 26 Issue 11, p2073-2076, 4p, 1 Graph

مصطلحات موضوعية: BLOOD filtration, PLASMA exchange (Therapeutics), HEMOLYTIC-uremic syndrome treatment, HEMODIALYSIS, HEMOLYTIC-uremic syndrome, PERITONEAL dialysis, DISEASE relapse, CHILDREN, GENETICS

مستخلص: Atypical haemolytic uraemic syndrome (aHUS) is frequently associated with mutations in the gene encoding complement factor H ( CFH). The clinical response to plasma therapy in aHUS is variable. We present here our experience of plasma therapy in three aHUS patients with CFH mutations. Three children presented aged 4, 22 and 6 months (patients 1-3 respectively) in acute kidney injury requiring dialysis. Plasma therapy consisting of plasma filtration (patient 1) or plasma exchange (PEX; patients 2 and 3) was commenced early following presentation. This resulted in aHUS remission and cessation of dialysis after 2 weeks, 9 days and 2 weeks respectively. Relapses were common and associated with increasing the interval between PEX, but all responded to intensification of PEX therapy. Patient 1 recovered 50% of renal function after first presentation. She had four relapses and started peritoneal dialysis 41 months after presentation. Mutation screening of CFH showed a missense mutation (c.3546 G > T, p.Arg1182Ser) in exon 23. PEX in patient 2 was slowly tapered over 4 months to fortnightly sessions, but she relapsed when PEX was extended to every 4 weeks. Renal function remained normal 12 months post-presentation. Mutation screening of CFH showed a mutation in exon 23 (c.3590 T > C, p.Val1197Ala) and two additional sequence variants in exons 3 and 4. Patient 3 had two relapses associated with intercurrent illnesses concurrent with reducing PEX to weekly doses. Renal function was normal 5 months post-presentation. All three patients showed a good response to PEX with improved renal function both initially and following a relapse. Further research is necessary to determine the best maintenance strategy to delay or prevent end-stage kidney disease. [ABSTRACT FROM AUTHOR]

: Copyright of Pediatric Nephrology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

المؤلفون: Platt, Caroline, Inward, Carol, McGraw, Mary, Dudley, Jan, Tizard, Jane, Burren, Christine, Saleem, Moin A.

المصدر: Pediatric Nephrology; Jan2010, Vol. 25 Issue 1, p143-148, 6p, 3 Charts, 3 Graphs

مصطلحات موضوعية: HEMODIALYSIS patients, DRUG utilization, HYPERPARATHYROIDISM, CHRONIC kidney failure in children, PARATHYROID hormone, MEDICAL research

مستخلص: The effects of the calcimimetic drug Cinacalcet were assessed in six children with uncontrolled hyperparathyroidism secondary to stage 5 chronic kidney disease (CKD). Data were collected retrospectively regarding bone biochemistry and medications. Patients were between the ages of 11 months and 14 years on commencing Cinacalcet at initial doses of 0.4–1.4 mg/kg. Treatment, which was well tolerated in the majority and still on going in five patients, was for periods ranging between 3 months and 3 years. All six cases saw at least an 86% reduction in serum parathyroid hormone (PTH). Hypophosphataemia and/or hypocalcaemia were observed in three cases. Overall, achievement of UK Renal Association targets for corrected calcium (Ca), phosphate (P) and the calcium × phosphate product (Ca × P) were unaffected. We conclude that Cinacalcet is an effective treatment for correcting and sustaining correction of uncontrollable PTH levels seen in a difficult group of patients. Importantly, it has allowed the avoidance of parathyroidectomy for a significant time period in all cases. There remain questions about the effect of Cinacalcet on linear growth amongst paediatric dialysis patients, and future studies should aim to address this. [ABSTRACT FROM AUTHOR]

: Copyright of Pediatric Nephrology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

المؤلفون: Dudley, Jan, Fenton, Theo, Unsworth, Joe, Chambers, Timothy, MacIver, Angus, Tizard, Jane

المصدر: Pediatric Nephrology; 1996, Vol. 10 Issue 6, p752, 4p

مصطلحات موضوعية: SYSTEMIC lupus erythematosus, NEPHROTIC syndrome

مستخلص: A male Caucasian infant developed nephrotic syndrome at 10 weeks of age. He had high titres of anti-nuclear antibody (ANA) and anti-double-stranded DNA antibody, with hypocomplementaemia, antiplatelet antibodies and anticardiolipin antibodies. There were no detectable antibodies to extractable nuclear antigens (ENA). His mother was consistently seronegative for anti-ENA (anti-Ro) antibodies and ANA. He developed severe, progressive multisystem involvement, however renal function has remained stable. Immunosuppression has been the mainstay of therapy in this rare presentation of systemic lupus erythematosus. [ABSTRACT FROM AUTHOR]

: Copyright of Pediatric Nephrology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

المؤلفون: Dudley, Jan, Allen, John, Tizard, Jane, McGraw, Mary

المصدر: Pediatric Nephrology; 1998, Vol. 12 Issue 7, p564-566, 3p

مصطلحات موضوعية: NEONATAL diseases, RENAL tubular transport disorders, PEDIATRIC nephrology

مستخلص: Two male infants born to consanguineous parents were investigated for feeding difficulties in the 1st month of life. Both were found to have distal renal tubular acidosis (dRTA) with hypercalciuria. Nephrocalcinosis was present in the first child but not in the second. Urinary organic acid profile demonstrated an excess of methylmalonic acid (MMA) in both children in the absence of any other organic acid. MMA mutase activity and propionate incorporation were normal. There have been no neurological symptoms in either child. The first child has normal growth and psychomotor development at 4 years. His brother, who also has significant gastro-oesophageal reflux, has failed to thrive and currently requires nasogastric feeding and caloric supplements to maintain weight along the 3rd percentile. Urinary and plasma MMA continue to be raised in both cases. The association of increased urinary and plasma MMA and dRTA presenting in the 1st month of life has not previously been reported and may represent a new syndrome of autosomal recessive inheritance. [ABSTRACT FROM AUTHOR]

: Copyright of Pediatric Nephrology is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)