Nephrotic Syndrome, Type 1

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WHO-ICD-10 version:2010

Diseases of the genitourinary system

Glomerular diseases

OMIM Number

256300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

19q13.1

Description

Finnish congenital nephrosis is a very rare autosomal recessive form of nephrotic syndrome. It is seen more commonly in families of Finnish descent, with an incidence of 1:10,000 births, but can affect every race, with a considerably lower frequency. It is a distinct clinical entity involving massive proteinuria, prematurity, large placenta, hypoproteinemia and marked edema. The typical histological findings of Finnish congenital nephrosis kidneys are dilated proximal tubules, mesangial hypercellularity, and glomerular fibrosis and sclerosis. This progressive disease leads to death in the first two years of life; the only curative therapy is bilateral nephrectomy followed by renal transplantation.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
256300.1.1LebanonFemaleYesYes Atrial septal defect ; Ascites ; Nephr... NM_004646.3:c.1317T>GHomozygousAutosomal, RecessiveGharibeh et al, 2015 While the homozygous...
256300.1.2LebanonFemaleYesYes Nephrotic syndrome ; Death in infancy ... NM_004646.3:c.1317T>GHomozygousAutosomal, RecessiveGharibeh et al, 2015 Sister of 256300.1.1
256300.1.3LebanonMaleYesYes Nephrotic syndrome ; Death in infancy ... NM_004646.3:c.1317T>GHomozygousAutosomal, RecessiveGharibeh et al, 2015 Brother of 256300.1....
256300.1.4LebanonMaleYesYes Nephrotic syndrome ; Death in infancy ... NM_004646.3:c.1317T>GHomozygousAutosomal, RecessiveGharibeh et al, 2015 Brother of 256300.1....
256300.2TunisiaMaleNoYes Mesangial hypercellularity ; Death in i... NM_004646.3:c.1847A>GHomozygousAutosomal, RecessiveMbarek et al. 2011
256300.3.1TunisiaMaleYesYes Death in infancy ... NM_004646.3:c.1170+2T>CHomozygousAutosomal, RecessiveMbarek et al. 2011
256300.3.2TunisiaMaleYesYes Death in infancy ... NM_004646.3:c.1170+2T>CHomozygousAutosomal, RecessiveMbarek et al. 2011 Brother of 256300.3....
256300.4TunisiaMaleNoYes Death in infancy ... NM_004646.3:c.1379G>A, NM_004646.3:c.614_621delinsTTHeterozygousAutosomal, RecessiveMbarek et al. 2011
256300.G.1United Arab EmiratesUnknownYes NM_004646.3:c.1134G>AHomozygousAutosomal, RecessiveAl-Gazali and Ali, 2010 Family with unknown ...

Other Reports

Jordan

Hamed and Shomaf, 2001, reviewed the clinical characteristics, pathologic findings, and results of medical management in 30 infants who presented to Jordan University Hospital with congenital nephrotic syndrome in the years 1989 to 1999. 

Kuwait

Zaki et al, 1994, carried out a case control study involving 48 Arab children with steroid responsive childhood nephritic syndrome to see if there was any HLA association in this population. HLA-DR7 and HLA-CW6 were found to be significantly increased in the patient group, while HLA-DQW1 and HLA-CW4 were significantly reduced.

Al-Eisa et al, 2001, studied ACE gene polymorphisms in 54 Kuwaiti Arab children with idiopathic nephrotic syndrome. The patient group was found to have a significantly higher percentage of the DD genotype (70%) compared to the healthy controls (52%). In addition, cases with the DD genotype showed a significantly higher incidence of steroid sensitivity, steroid dependence, and a severe phenotype. The authors surmised that ACE inhibitors could be used in cases with the DD genotype to prevent progression to renal failure.

Oman

Rajab et al, 2005, undertook a study to estimate the prevalence of commonly diagnosed autosomal recessive diseases in Oman from a hospital-based register in the years 1993 to 2002. The study revealed that congenital nephrotic syndrome (Finnish type) was diagnosed in 25 patients, with an observed incidence of 1 in 20,000 births.

Saudi Arabia

Abdurrahman et al, 1989, evaluated 16 Saudi children with juvenile nephrotic syndrome over a 5-year period. The following year, Abdurrahman et al, 1990, described the clinicopathological features in 119 Arab children from Saudi Arabia with the nephrotic syndrome. The authors concluded that the pattern of childhood nephrotic syndrome in Saudi Arabia is different from that in tropical countries.

Sudan

Elshibly et al, 1987, reported a 5-month-old Sudanese boy with a probable diagnosis of Congenital Nephrotic Syndrome. The case had features which were neither typical of the Finnish type nor of other hereditary renal diseases. 

United Arab Emirates

Abou-Chaaban et al, 1997, studied the pattern of pediatric renal diseases among children in the Dubai Emirate between the years of 1991 and 1996. In this period, a total of 712 pediatric patients, including 230 nationals of the United Arab Emirates, were seen with various renal problems. Of a total of 13 patients with congenital nephrotic syndrome, three were nationals from the United Arab Emirates. 

 

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