Adenine-rich diet: a potential mechanism for renal fibrosis progression

Chronic kidney disease (CKD) is a major health problem but there are many modalities to prevent and manage CKD progression. Diet is one of these factors, which needs to be evaluated more. Adenine is a water-soluble nucleoprotein that exists in both vegetables and animal foods, which triggers and aggravates fibrosis process besides other metabolic derangements such as diabetes mellitus affection that accelerates glomerular filtration rate decline rapidly

Joubert Syndrome with Variable Features: Presentation of Two Cases

How to Cite this Article: Barzegar M, Malaki M, Sadegi-Hokmabadi E. Joubert Syndrome with Variable Features: Presentation of Two Cases. Iran J Child Neurol. 2013  Spring;7(2):43-46. AbstractJoubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. We present two cases of this syndrome with different phenotypes. The first case was an 8-month-old girl with hypotonia, apnea, and mild developmental delay as well as retinal degeneration and unilateral renal cystic dysplasia. The second case was a 27-month-old boy who presented with episodes of hyperpnea, apnea, retinal dystrophy, and severe global developmental delay. Both patients had normal metabolic profile and prototype imaging of joubert syndrome including vermis agenesis and molar tooth sign.  References1. Zamponi N, Rossi B, Messori A, Polonara G, Regnicolo L, Cardinali C. Joubert syndrome with associated corpus callosum agenesis. Eur J Paediatr Neurol 2002;6(1):63-6.2. Ishikawa T, Zhu BL, Li DR, Zhao D, Michiue T, Maeda H. An autopsy case of an infant with Joubert syndrome who died unexpectedly and a review of the literature. Forensic Sci Int 2008 Aug 6;179(2-3):e67-73.3. Joubert Syndrome Foundation, 2003. Available at http://www.joubertsyndrome.org. Accessed February 19, 2003.4. Joubert M, Eisenring JJ, Robb JP, Andermann F. Familialagenesis of the cerebellar vermis. A syndrome of episodichyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969 Sep;19(9):813-25. 5. Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999 Sep;14(9):583-90; discussion 590-1.6. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006;7:125-48. Review.7. Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999 Oct;14(10):660-6; discussion 669-72. Review.8. Doherty D, Glass IA, Siebert JR, Strouse PJ, Parisi MA, Shaw DW, et al. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn 2005 Jun;25(6):442-7. Review.9. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. Review.10. Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndromerelated disorders. Am J Hum Genet 2007 Jul;81(1):104-13.11. Salomon R, Saunier S, Niaudet P. Nephronophthisis. Pediatr Nephrol 2009 Dec;24(12):2333-44.12. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 2004 Sep;36(9):1008-13.13. Joubert M, Eisenring JJ, Andermann F. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology 1968 Mar;18(3):302-3.14. Boltshauser E, Herdan M, Dumermuth G, Isler W. Joubertsyndrome: clinical and polygraphic observations in a further case. Neuropediatrics 1981 May;12(2):181-9

Change in Attitude in Renal Function in Major Beta Thalassemia

Thalassemia is a multisystemic disease in the field of hemolysis and chronic anemia caused by the erythropoietic disorder. The severe effects of iron overload from continuous blood transfusion iron chelators side effects, and involvement of multiple organs in thalassemias such as heart failure, liver, and endocrine dysfunction can all affect kidney function. Although there has been much debate about changes in renal function in thalassemia for many years, the presence of hyperfiltration and ultimately, decreased renal function in almost all studies. It seems for the researchers to look beyond kidney function in a thalassemia perspective, because of secretory biomarkers of proximal tubular renal cells that are sensitive to pathologic agents, which may be a good indicator of the courses of treatment and prognosis of patients. Future studies will be sooner or later. *Corresponding Author: Malihe Najafpour; Email: [email protected] Please cite this article as: Malaki M, Najafpour M, Talebi M, Azimi A. Change in Attitude in Renal Function in Major Beta Thalassemia. Arch Med Lab Sci. 2020;6:1-5 (e24). https://doi.org/10.22037/amls.v6.3305

Association of Brucella Meningoencephalitis with Cerebrospinal Fluid Shunt in A Child: A Case Report

How to Cite This Article: Abdinia B, Barzegar M, Maleki M, Behbod H, Oskoui Sh. Association of Brucella Meningoencephalitis with Cerebrospinal Fluid Shunt in a Child: a Case Report. Iran J Child Neurol. 2013 Winter:7(1):35-38. Brucellosis is an endemic zoonosis in Iran. It is a systemic infection that can involve any organs or systems of the body and have variable presentations. Ventriculoperitoneal (VP) shunt infections due to brucellosis have been rarely reported in the literatures.This  is  the  history  of  a  four  years  old  boy  who  developed  Brucella meningoencephalitis at the age of 42 months, whilst he had a VP shunt in situ for hydrocephalus treatment. Also, he presented brucellosis as acute abdomen. This patient was treated with trimethoprim-sulfamethoxazole, gentamicin and rifampicin. The shunt was extracted and all clinical and laboratory test abnormalities subsided through this management.We propose that in a patient with Brucella meningoencephalitis, the cerebrospinal  fluid shunt  system  can  be  extracted  and  treatment  with appropriate combination of antibiotics could be successful. Moreover, it shows that brucellosis should be considered in the differential diagnosis for acute abdomen and ascites in endemic regions.References1. Hasanjani Roushan MR, Mohrez M, Samilnejad Gangi SM, Soleimani Amiri MJ, Hajiahmadi M. Epidemiological features and clinical manifestations in 469 adult patients with brucellosis in babol, Northern Iran. Epidemiol infect 2004;132(6):1109-142. Bouza E, García de la Torre M, Parras F, Guerrero A, Rodríguez-Créixems M, Gobernado J. Brucellar meningitis. Brucellar meningitis. Rev Infect Dis 1987; 9(4):810-22.3. Young EJ. Brucella species. In: Mandell GL, Bennett JE, Dolin R, eds. Mandell, Douglas and Bennetts Õs Principles and Practice of Infectious Diseases. 5th ed. New York: Churchill Livingstone; 2000. p. 86-93.4. Feiz J, Sabbaghian H, Miralai M. Brucellosis due to Brucella melitensis in children. Clinical and epidemiological observations on 95 patients studied in Central Iran. Clin Pediatr 1978;17:904-7.5. Young EJ. Human brucellosis. Rev Infect Dis 1983; 5(5):821-42.6. Llorens-Terol J, Busquets RM. Brucellosis treated with rifampicin. Arch Dis Child 1980;55(6):486-8.7. FeizJ, Sabbaghian H, Miralai M. Brucellosis due to Brucella melitensis in children. Clinical and epidemiological observations on 95 patients studied in Central Iran. Clin Pediatr 1978;17:904-7.8. Wald SL, McLaurin RL. Cerebrospinal fluid antibiotic levels during treatment of shunt infections. J Neurosurg 1980;52(1):41-6.

Rehydration: Comparison of Isotonic and Hypotonic Saline with Dextrose in Children

Introduction: Early rehydration with bolus fluid can be life saving. We compared isotonic saline with a hypotonic fluid which was composed of saline 0.9%, dextrose, and bicarbonate in our clinical setting.Materials and Methods: 71 children entered to this study , 41 cases received isotonic saline and the remaining 30 cases received hypotonic fluid which was composed of 750 cc saline 0.9%, 28 cc bicarbonate 7.5%, and 222cc dextrose 5% for resuscitation fluid challenge at a dose of 20ml/kg over 20 minutes that could be repeated up to 3 times as needed. Serum sodium (Na), potassium (K), blood sugar (BS) and bicarbonate (HCo3) were measured before initiating rehydration and after 3 hours. T independent test was used to compare the values between the two groups and T paired test in each group in SPSS 16. The level of significance was set at 0.05.Results: Serum Na, K, BS, and HCo3 were 134±5, 3.8 ±0.6, 90±16, and 11.6±3.6 before and 135±4, 3.7±0.5, 73±13, and 15±3 three hours after rehydration in the isotonic group, respectively.In the isotonic rehydrated group, BS drop and HCo3 rise significantly (p<0.001). Serum Na, K, BS, and HCo3 were 134±6, 3.6±0.6, 91±15, and 10.1±1.9 before and 136±3, 3.6±0.4, 94±10, and 15±2 three hours after rehydration in the hypotonic saline group, respectively. Serum sodium increased 2meq/dl (p<0.04) and bicarbonate increased 4.9 meq/l (P< 0.001).Conclusions: The hypotonic serum containing 115meq/l of sodium chloride combined with 25meq/l of sodium bicarbonate and dextrose 1.1% is not associated with a decrease in BS or hyponatremia. It also increases serum HCo3 prominently.Keywords: Hypotonic Solutions; Isotonic Solutions; Dehydration; Child

Piperazine side-effects in a patient with pre-existing renal insufficiency

Piperazine as an antihelminth has many adverse effects, especially on patients with renal insufficiency. We report the use of piperazine in a girl with a moderately severe kidney disease due to Biedl Bardet syndrome. She developed coma and acute kidney injury due to acute interstitial nephritis (AIN), anemia and thrombocytopenia. The presence of fever, proteinuria, acidosis, anemia, sterile pyuria and non-oliguric renal failure strongly suggested AIN. Her problems abated mostly by discontinuing of piperazine and supportive therapy, except anemia and thrombocytopenia