Novel NPHS1 gene mutation in an Iranian patient with congenital nephrotic syndrome of the Finnish type.
نویسندگان
چکیده
At physical examination, the patient had a weight of 4,750g, a body length of 52cm, and his blood pressure was 80/60mmHg. Laboratory data showed blood urea nitrogen (BUN) of 7mg/dL, creatinine (Cr) of 0.39mg/dL, total protein of 5g/dL, and albumin of 2.36g/dL. Other laboratory tests revealed the following values: cholesterol: 152mg/dL, triglyceridemia: 111 mg/dL, calcium: 7.5mg/dL, P: 5.6mg/dL, alkaline phosphatase: 2600IU/L, random protein/Cr: 525/44 mg/mg and 3+ protein in urinalysis. TORCH study was negative and immunologic investigations were normal. Thyroid tests showed hypothyroidism (TSH: 38 ng/dL, FT4: 0.4 ng/L). By echocardiography, valvular pulmonary stenosis was seen. Kidney biopsy showed mesengial proliferation in glomeruli and proliferative changes in smooth muscle layer in the artery, suggestive for nephrotic syndrome (Figure 1). Therefore albumin infusions, levothyroxin, and enalapril (0.1mg/kg/d) and other supportive care were started for the patient.
منابع مشابه
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. Mutations in the NPHS1 gene, which encodes nephrin, are the main causes of congenital nephrotic syndrome in patients. In this study, we report...
متن کاملTwo Korean Infants with Genetically Confirmed Congenital Nephrotic Syndrome of Finnish Type
Congenital nephrotic syndrome is defined as nephrotic syndrome which manifests in utero or during the first 3 months of life. The prototype of congenital nephrotic syndrome is congenital nephrotic syndrome of Finnish type (CNF, OMIM #602716), which is caused by loss-of-function mutations of the nephrin gene (NPHS1). There have been few clinical case reports of CNF in Korea, but none of which wa...
متن کاملNovel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.
Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age. It is characterized by early onset and progresses to end-stage renal disease. Recently, several genes associated with CNS have been identified, including NPHS1 and NPHS2. Mutations in the NPHS1 gene have been identified in patients with CNS in Finland with relatively high ...
متن کاملDetection of the Finnish-type congenital nephrotic syndrome by restriction fragment length polymorphism and dual-color oligonucleotide ligation assays.
BACKGROUND Congenital nephrotic syndrome of Finnish type (NPHS1) is an autosomal recessive disorder characterized by severe proteinuria of intrauterine onset. Ninety-four percent of the Finnish NPHS1 chromosomes have been reported to carry either a 2-bp deletion in exon 2 (Fin(Major)) or a nonsense mutation in exon 26 (Fin(Minor)) of the NPHS1 gene. The high prevalence of only two mutations in ...
متن کاملThirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
BACKGROUND Congenital nephrotic syndrome (CNS) is de- fined as nephrotic syndrome that manifests at birth or within the first 3 months of life. Most patients develop end-stage renal disease (ESRD) within 2 to 3 years of life. CNS of the Finnish-type (CNF) features a rather specific renal histology and is caused by recessive mutations in the NPHS1 gene encoding nephrin, a major structural protei...
متن کاملMutations in NPHS1 in a Chinese child with congenital nephrotic syndrome.
Since the identification of the NPHS1 gene, which encodes nephrin, various investigators have demonstrated that the NPHS1 mutation is a frequent cause of congenital nephrotic syndrome (CNS); it is found in 98% of Finnish children with this syndrome and in 39-80% of non-Finnish cases. In China, compound heterozygous mutations in the NPHS1 gene have been identified in two Chinese families w...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia
دوره 33 5 شماره
صفحات -
تاریخ انتشار 2013