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Symptoms of congenital nephrotic syndrome in children

2017-01-07 16:13

[symptom]

Family history and history of production

A large proportion of children with CNS had a positive family history. Pregnancy associated with toxemia of pregnancy. The characteristic feature is the large placenta, and the normal placenta does not exceed 25% of the weight of the fetus, while in the Huttenen report, the placenta accounts for about 0.42 of body weight, compared with a normal control of about 0.18. Most of the patients ranged from 35 to 38 weeks premature, low birth weight, often for breech, often intrauterine asphyxia, low Apgar score, with meconium amniotic fluid. Elevated amniotic fluid AFP level is a characteristic change in children, due to in utero proteinuria, 16 to 22 weeks of gestation, amniotic fluid AFP levels increased.

Clinical features

(1) special appearance and growth retardation: common special appearance after birth, such as eyes and wide, low ears, nose low, cranial suture width, anterior and posterior fontanelle is wide, common hip and knee and elbow flexion deformity was. The common abdominal distension, ascites, umbilical hernia. As a result of protein malnutrition, children often have growth and development, but also associated with gastroesophageal reflux and pyloric stenosis report.

(2) proteinuria: proteinuria in children was significant and persistent, initially with highly selective proteinuria, a selective decrease in the later stages of the disease, and a marked hypoalbuminemia and hyperlipidemia in children.

(3) edema: half in the birth of the next 1 to 2 weeks to see edema. Can also be delayed until a few months after the parents found.

Secondary change

(1) low immunity: due to the loss of Ig in the urine and the B factor of the complement system, the low immunity caused by D factor, such as pneumonia, meningitis, septicemia and other secondary infection.

(2) renal dysfunction: with the increase of age, the renal function was gradually decreased, and GFR was often <50ml/ (min.1.73m2) in the last second years.

(3) thrombosis, embolism: seen in multiple vessels such as peripheral artery, sagittal sinus, kidney, lung and other veins. Children often showed high coagulation state, and even thrombosis, embolism complications, Mahan and other cases of 10% of such complications.

(3) other: loss of vitamin D binding protein and vitamin D deficiency. Loss of T4 and thyroid binding protein in urine and hypothyroidism. The loss of transferrin due to iron deficiency anemia.

Different types have different symptoms

1 non Finland type in more than 3 months to the age of onset in children, occasionally also seen at birth or within 3 months after birth in the 3. Clinically, most of these children are nephrotic syndrome, and more rapidly progressed to end-stage renal disease. The pathological features were diffuse mesangial sclerosis or hyperplastic sclerosis, focal segmental sclerosis, cystic dilatation of the renal tubules, and deep cortical layer. The disease is autosomal recessive genetic disease.

Family history of type 2 in Finland, the existing intrauterine proteinuria in clinical symptoms, blood albumin has been <10g/L, when correcting the serum albumin and 15g/L, urine protein >20g/L, placenta (birth weight > 25%), clinical manifestations and within 6 months of GFR is normal.

3.Roos syndrome is associated with nephrotic syndrome in infancy. Is also a familial disease. The renal pathology of Roos syndrome is focal segmental glomerulosclerosis with extensive mesangial disintegration. Show microcephaly, infantile spasms, psychomotor retardation, spine epithelial dysplasia, mental retardation, conductive hearing loss and retinitis pigmentosa, and infants with focal segmental glomerulosclerosis and nephrotic syndrome related.

4.Drash syndrome Drash syndrome is congenital nephrotic syndrome, renal pathology is diffuse sclerosis. With Wilms tumor and (or) male pseudohermaphroditism, other related diseases such as cataract, corneal opacity, microcephaly, strabismus, nystagmus and hypertelorism etc..

5.Galloway-Mowat syndrome Galloway-Mowat syndrome is also manifested as congenital nephrotic syndrome. Renal pathology is typical, in the glomerular basement membrane structure distorted, floc and filaments (6 ~ 8nm) deposition.

6 secondary congenital nephrotic syndrome

Clinical manifestations: secondary CNS in addition to the clinical manifestations of kidney disease, but also often associated with some of the characteristics of the clinical symptoms of primary diseases.

[diagnosis]

Identification should be first of all, except for those who have been known to cause secondary causes, because of the treatment of the original disease (such as secondary to the anti syphilis treatment of syphilis) is expected to alleviate kidney disease. Combined with other clinical and laboratory manifestations of the original cause of secondary disease, many can be clearly diagnosed.

Finland type diagnosis

(1) prenatal diagnosis: prenatal diagnosis often depends on the alpha fetoprotein in amniotic fluid. AFP is a kind of normal fetal protein, which is synthesized by fetal liver, yolk sac and digestive tract. Fetal blood concentration peaked at 13 weeks gestation. When fetal proteinuria occurs, AFP enters the amniotic fluid with urinary protein. Therefore, once the delivery of the disease in pregnant women in pregnancy again at 11 ~ 18 weeks to detect amniotic fluid AFP can contribute to prenatal diagnosis. But we should pay attention to the increase of the protein can also be found in neural tube defects in children, but the neural tube defects in amniotic fluid AFP increased, cholinesterase also increased, can be distinguished, in addition AFP can also be found in twins and Turner syndrome. In recent years, due to the study of NpH-SI gene sequence, we have to make sure the prenatal diagnosis.

(2) clinical diagnosis depends on:

Family history.

In the uterus, there are proteinuria, in clinical symptoms, blood albumin has been more than <10g/L, when corrected for albumin in the blood to 15g/L, urinary protein can be >20g/L.

Placenta (25% of birth weight).

The clinical manifestations and within 6 months of GFR is normal.

The exclusion of other known cause.

The renal biopsy

 

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