WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
present at birth but not necessarily hereditary; acquired during fetal development (同)inborn, innate

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
(病気・身体的欠陥など)生まれつきの,先天的な

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/07 02:47:14」(JST)

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Congenital nephrotic syndrome is an inherited disorder characterized by protein in the urine and swelling of the body.

Causes

Congenital nephrotic syndrome is a very rare form of nephrotic syndrome. It occurs predominantly in families of Finnish origin and manifests shortly after birth. It is an inherited disorder. The condition is caused by a defect in the protein nephrin, which is found in the kidney.

Proteins and fats are excreted in the urine, and there is an abnormally high fat level in the blood. Swelling occurs due to kidney failure, combined with the loss of blood protein. This is because proteins in the blood normally keep fluids in the blood stream, and when protein level is low, the fluid can leak into the body tissues.

Some of the proteins lost in the urine are immune system antibodies that fight infections. The disorder commonly results in infection, malnutrition, and kidney failure. It can often lead to death by 5 years of age.

Symptoms

Low birth weight
Large placenta
Swelling (total body)
Decreased urine output
Foamy appearance of urine
Poor appetite
Cough

Diagnosis

An examination reveals massive fluid retention and generalized swelling. Abnormal sounds are heard when listening to the heart and lungs with a stethoscope. Blood pressure may be high. The patient may have signs of malnutrition.

A urinalysis reveals large amounts of protein and the presence of fat in the urine. Total protein in the blood may be low. The disorder can be screened during pregnancy by finding elevated levels of alpha-fetoprotein on a routine sampling of amniotic fluid. Genetic tests should be used to confirm the diagnosis, if the screening test is positive.

CNF is one of the Finnish heritage diseases. By use of positional cloning strategies, Kestila et al.^[1] isolated the gene responsible for NPHS1. Mutations in Finnish patients with NPHS1 were found in this gene, which they termed nephrin. The most common Finnish mutation was a deletion of 2 nucleotides in exon 2 (602716.0001), resulting in a frameshift and a truncated protein. The predicted nephrin protein belongs to the immunoglobulin family of cell adhesion molecules and is specifically expressed in renal glomeruli. It was also observed that, in most cases, alleles typically found on CNF chromosomes of Finnish families were also found on CNF chromosomes of non-Finnish families from North America and Europe.^[2]

Frequent infections may occur over the course of the disease.

Treatment

Early and aggressive treatment is required to control the disorder. Diuretic medications help rid the body of excess fluid. ACE inhibitor medications (like Captopril and others) and non-steroidal anti-inflammatory drugs (like indomethacin) are used to slow the spilling of protein in the urine. Antibiotics may be needed to control infections.

Dietary modifications may include the restriction of sodium and use of dietary supplements as appropriate for the nature and extent of malnutrition. Fluids may be restricted to help control swelling.

Removal of the kidneys, dialysis, and kidney transplant may be recommended.

Prognosis

Many cases are fatal within the first year. Congenital nephrotic syndrome may be successfully controlled in some cases with early and aggressive treatment, including early kidney transplantation.

Complications

Frequent, severe infections
Malnutrition and related diseases
Blood clots
Acute kidney failure
Chronic kidney failure
End-stage kidney disease

References

^ Kestilä M, Männikkö M, Holmberg C, Tryggvason K, Peltonen L (February 1994). "Congenital nephrotic syndrome of the Finnish type is not associated with the Pax-2 gene despite the promising transgenic animal model". Genomics 19 (3): 570–2. doi:10.1006/geno.1994.1109. PMID 8188301.
^ Online 'Mendelian Inheritance in Man' (OMIM) NEPHROSIS 1, CONGENITAL, FINNISH TYPE; NPHS1 -256300

External links

OMIM: 256300 Congenital nephrotic syndrome, Finnish type; Congenital nephrotic syndrome 1 at NIH's Office of Rare Diseases
OMIM: 609049 Pierson syndrome; Microcoria and congenital nephrotic syndrome at NIH's Office of Rare Diseases

UpToDate Contents

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1. 先天性乳児ネフローゼ症候群 congenital and infantile nephrotic syndrome
2. 小児における特発性ネフローゼ症候群の合併症 complications of idiopathic nephrotic syndrome in children
3. ネフローゼ症候群患者における浮腫の病態生理学および治療 pathophysiology and treatment of edema in patients with the nephrotic syndrome
4. 重症蛋白尿およびネフローゼ症候群の概要 overview of heavy proteinuria and the nephrotic syndrome
5. 小児における腎移植の一般原則 general principles of renal transplantation in children

English Journal

Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.

Büscher AK1, Beck BB2, Melk A3, Hoefele J4, Kranz B5, Bamborschke D2, Baig S3, Lange-Sperandio B6, Jungraithmayr T7, Weber LT8, Kemper MJ9, Tönshoff B10, Hoyer PF1, Konrad M5, Weber S11; German Pediatric Nephrology Association (GPN).
Clinical journal of the American Society of Nephrology : CJASN.Clin J Am Soc Nephrol.2015 Dec 14. pii: CJN.07370715. [Epub ahead of print]
BACKGROUND AND OBJECTIVES: Treatment of congenital nephrotic syndrome (CNS) and steroid-resistant nephrotic syndrome (SRNS) is demanding, and renal prognosis is poor. Numerous causative gene mutations have been identified in SRNS that affect the renal podocyte. In the era of high-throughput sequenci
PMID 26668027

A COL4A5 mutation with glomerular disease and signs of chronic thrombotic microangiopathy.

Wuttke M1, Seidl M2, Malinoc A1, Prischl FC3, Kuehn EW1, Walz G1, Köttgen A1.
Clinical kidney journal.Clin Kidney J.2015 Dec;8(6):690-4. doi: 10.1093/ckj/sfv091. Epub 2015 Sep 29.
COL4A5 mutations are a known cause of Alport syndrome, which typically manifests with haematuria, hearing loss and ocular symptoms. Here we report on a 16-year-old male patient with a negative family history who presented with proteinuria, progressive renal failure and haemolysis, but without overt
PMID 26613025

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: a novel mutation is described.

Guaragna MS1, Cleto TL2, Souza ML1, Lutaif AC3, de Castro LC4, Penido MG5, Maciel-Guerra AT6, Belangero VM3, Guerra-Junior G7,8,9, De Mello MP1.
Nephrology (Carlton, Vic.).Nephrology (Carlton).2015 Nov 11. doi: 10.1111/nep.12667. [Epub ahead of print]
AIM: Autosomal recessive mutations in NPHS1 gene are a common cause of congenital nephrotic syndrome (CNS). The disorder is characterized by massive proteinuria that manifests in utero or in the neonatal period during the first 3 months of life. NPHS1 encodes nephrin, a member of the immunoglobuli
PMID 26560236