Genetic Study of Nephrotic Syndrome in Iranian Children- Systematic Review

Babak Behnam, Farzaneh Vali, Nakysa Hooman

Journal of Pediatric Nephrology, Vol. 4 No. 2 (2016), , Page 51-55

Idiopathic nephrotic syndrome is a heterogeneous disease with a spectrum of age at presentation, phenotype, renal pathology, and response to treatment. Many mutations are recognized to be implicated in sporadic or hereditary forms. The aim of this review was to summarize the results of the genetic studies which have already been carried out in Iran considering their limitations.

A literature search was conducted from March 1970 to September 2015 through MEDLINE, EMBASE, Google Scholar, Google, Iran Medex, Magiran, and SID. Eleven studies were relevant. Three articles were excluded due to insufficient data, duplicated case, and a syndromic nephrotic case without genetic studies. Our results showed that in the southwest of Iran, 80% of the patients had mutations in NPHS1 while in Fars Province, one third showed mutations in NPHS2 when all exons were assessed. In two different studies conducted in one center in Tehran, no mutation was detected in exon 5 but when all exons were studied, more than 65% had hot spot mutation in exon 8 of NPHS2. Interestingly, none of adolescents with FSGS showed mutation in p.R229Q (NPHS2, exon 5). This review revealed that both NPHS1 and NPHS2 were prevalent in Iranian children with SRNS. No mutation of p.R229Q was reported in Iranian adolescent with SRNS.

Keywords: Nephrin; NPHS2 protein; Nephrotic Syndrome; Glomerulosclerosis; Focal Segmental.

Original Research Papers

The Mean Platelet Volume in children with Pyelonephritis

Parsa Yousefichaijan, Manijeh Kahbazi, Aziz Eghbali, Hassan Taherahmadi, Mohammad Rafiei, Abdolghader Pakniyat

Journal of Pediatric Nephrology, Vol. 4 No. 2 (2016), , Page 56-59

Introduction: The mean platelet volume (MPV) is a determinant of inflammation. The aim of the present study was to investigate the MPV levels in children with pyelonephritis and to evaluate the possible relationship between MPV and febrile UTI.

Materials and Methods: In this prospective observational study, 82 patients with Pyelonephritis (group A) and 82 patients with viral gastroenteritis (group B) were enrolled from 20 Jun 2013 through 15 Jan 2014. The patients were divided into two groups according to the presence of pyelonephritis and viral gastroenteritis. The pyelonephritis group (A) included 82 patients and the acute gastroenteritis group (B) included 82 patients. Complete blood count (CBC) parameters were measured at admission. Routine biochemical tests were performed. Groups were compared according to different parameters.

Results: A total of 164 patients were included from inpatients of Amir-Kabir Hospital. The mean platelet volume was lower in group (A) and it was associated with acute pyelonephritis (P =0 .003). The MPV (6.03 ± 0.26 fl vs. 9.06 ± 0.73 fl) was significantly lower in group (A), the platelet count (219.88-± 52.31vs. 184.09 ± 52.21) was significantly higher in group (A), and the WBC count (13.01± 3.43 vs. 8.30 ± 1.13) was significantly higher in group (A).

Conclusions: MPV levels were significantly lower in children with pyelonephritis compared with controls. MPV can be used as a negative acute phase reactant in children with febrile UTI.

Keywords: Child; Pyelonephritis; Mean Platelet Volume; Urinary tract infection.

Efficacy of Cyclophosphamide versus Cyclosporine in Frequent Relapse Nephrotic Syndrome – A Hospital Based Study

Md Habibur Rahman, Syed Saimul Huque, Md Azizur Rahman, Golam Muin Uddin

Journal of Pediatric Nephrology, Vol. 4 No. 2 (2016), , Page 60-64

Introduction: The clinical outcome of patients with Frequent Relapse Nephrotic Syndrome (FRNS) or Steroid Dependent Nephrotic Syndrome (SDNS) treated with cyclophosphamide or cyclosporine (CsA) is yet to be established. This study was carried out to compare the efficacy of CsA with cyclophosphamide in patients with FRNS or SDNS.

Materials and Methods: A total of 54 FRNS or SDNS children were randomly enrolled in this prospective study from August 2013 to July 2014. All the study subjects were treated with prednisolone 60 mg/m2 /day until the patients were in remission for three consecutive days. The patients were then randomly divided into two groups (Group-A & Group-B). Group-A was treated with cyclophosphamide at a dose of 2.5 mg/kg/day for 60 days, along with tapering dose prednisolone for 8 weeks. The Group-B study population was treated with cyclosporine at a dose of 3 mg/kg/day for 6 months or longer along with tapering dose of alternate day prednisolone for the initial 8 weeks. Four patients in Group-B and one patient in Group-A did not continue the treatment. So, we followed-up 49 children during this period.

Results: The efficacy of both drugs was good after 6 months of treatment. Remission was observed in 80% of the cases in Group-A and 79% of the cases in Group-B. Even after 6 months of treatment 6.7% and 10.5% of the patients with SDNS in Group-A and Group-B needed to continue corticosteroid therapy, respectively. The side effects of immunosuppressive therapy were more frequently observed in Group-B patients. On the other hand, the mean serum creatinine level after 6 months therapy was 0.55±0.21mg/dl in Group-A and 0.84±0.43 mg/dl in Group-B. The difference between the two groups was statistically significant (p<0.05).

Conclusions: This study showed that both drugs were effective in FRNS and SDNS.

Keywords: Child; Nephrotic syndrome; Cyclophosphamide; Cyclosporine.

Reliability of Urine Strip Test For Confirmation of Methadone Poisoning in Children

Fariba Farnaghi, Zahra Pournasiri, Amirhossein Vakili

Journal of Pediatric Nephrology, Vol. 4 No. 2 (2016), , Page 65-69

Introduction: Methadone is a drug with biologic effects similar to morphine which acts via interacting with major classes of receptors  κand µ. It has a half-life of 25 to 50 hours. Ingestion of this substance causes serious symptoms such as bradycardia, apnea, decreased level of consciousness, and death. Rapid diagnosis and treatment is life-saving. The methadone urine test is an easy to perform test which could detect the substance rapidly. This study was conducted to determine the reliability of the positive methadone urine test in the first and second days of poisoning in children below the age of 13 who have been poisoned with it.

Materials and Methods: A total of 50 children below 13 years of age were enrolled in the study from April 2013 to April 2014. They were referred to Loghman Hakim Hospital with a history of incidental methadone ingestion and clinical symptoms congruent with methadone poisoning such as apnea, drowsiness, decreased level of consciousness, and bradycardia and miosis. Methadone urine strip test was performed on the first and second days. Five parameters (age, gender, dose of ingested methadone, urine SG, and urine pH) were tested and recorded for each patient.

Results: This test is an accruable test for the detection of methadone (P value<0.05). Findings suggested that as little as 2 mg of methadone administration could lead to a positive urine test. The highest frequency of positive test was observed when the test was given between 6 to 12 hours after methadone ingestion and the lowest frequency was obtained in the first 6 hours after poisoning. It is suggested that the test result can be false negative if it is carried out in less than 6 hours after methadone consumption.

Conclusions: According to the results of this study, the methadone urine drug screen test has high accuracy for detection of methadone in the urine. In addition, if the initial test result is negative in the first 24 hours, we recommend that the test should be repeated 24 hours after the ingestion; thus, two negative results in the first 48 hours of ingestion can rule out methadone poisoning by a probability of 98.5%.

Keywords: Poisoning; Urine Test; Methadone; Child.

Case Reports

Nephrotic Syndrome after Treatment with D-Penicillamine in a Patient with Wilson’s Disease- A Case Report

Afroza Begum, Md Azizur Rahman, AHM Muslima Akter, Morsheda Akter, Md Ashraful Islam, Golam Muin Uddin

Journal of Pediatric Nephrology, Vol. 4 No. 2 (2016), , Page 70-73

We report a case with Wilson’s disease who developed nephrotic syndrome one year after starting D-pencillamine. After stopping D-penicillamine, only zinc was given for maintenance. His proteinuria resolved after four weeks of full dose prednisolone administration and three intravenous methylprednosolone injections for nephrotic syndrome. Membranous glomerulopathy is most commonly associated with nephrotic syndrome secondary to D penicillamine but isolated cases of minimal change lesions are also reported like our case.

The most likely cause of nephrotic syndrome in this child was the late complications of D-penicillamine. It also reemphasizes the importance of early monitoring for proteinuria and the need to shift to an alternative agent if side effects develop.

Keywords: Nephrotic syndrome; D-pencillamine; Wilson’s disease.

A Rare case of Aphallia

Mastaneh Moghtaderi, Maryam Boroomand, Abdolmohammad Kajbafzadeh, Hamid Arshadi, Mohammad Ghohestani, Mehrzad Mehdizadeh

Journal of Pediatric Nephrology, Vol. 4 No. 2 (2016), , Page 74-77


Aphallia (total absence of penis) is an extremely rare abnormality that can be part of the urorectal septum malformation sequence.

We are reporting a 40-day-old boy who was referred to our nephrology clinic due to the absence of the penis and urinating through the rectum. He was born to a 17-year-old mother and a 24-year-old father, and was delivered term via normal vaginal delivery.

The pregnancy was uncomplicated with no maternal toxin or medication exposure. Both parents were healthy and there was no family history of congenital abnormality. The parents were also unrelated.

  Physical examination revealed agenesis of the penis, a normal scrotum, and bilateral normally positioned testises. Moreover, the heart, lungs, abdomen, head and neck, and spinal column were all normal on examination. The karyotype was 46XY and the gender was male. Initial ultrasonography one week after birth revealed moderate bilateral hydronephrosis but the last ultrasonography 45 days later revealed only mild fullness of both kidneys.

Keywords: Aphallia; Gender; penile agenesis.

Nephrogenic Diabetes Insipidus Secondary to Obstructive Uropathy – An Unusual Presentation- A Case Report

Md Habibur Rahman, MD Azizur Rahman, Syed Saimul Huque

Journal of Pediatric Nephrology, Vol. 4 No. 2 (2016), , Page 78-81

Diabetes insipidus is a clinical condition, characterized by polyuria and polydipsia, that results from either insufficient production or end organ resistance to antidiuretic hormone (ADH). Diabetes insipidus is of two types: central diabetes insipidus (CDI) and nephrogenic diabetes insipidus (NDI).Children with diabetes insipidus may present with polyuria, polydipsia, frequent dehydration, constipation, and failure to thrive. Acquired NDI may results from various drugs and conditions but NDI due to obstructive uropathy is very rare. There are very few case reports of NDI due to obstructive uropathy. We report a 2-year-old child who presented with diabetes insipidus as a consequence of obstructive uropathy.

Keywords: Nephrogenic diabetes insipidus; Obstructive Uropathy; Child.