Rare Gastroenterology News

Disease Profile

Congenital nephrotic syndrome Finnish type

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

N04.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Nephrosis 1, congenital, Finnish type; Congenital nephrotic syndrome 1; Nephrosis, congenital;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

Congenital nephrotic syndrome Finnish type is a genetic condition of the kidney that begins early in development during pregnancy or within the first three months of life. The syndrome is characterized by a group of symptoms, including protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, and swelling (nephrotic syndrome), which progresses rapidly to end-stage kidney disease. Infants with congenital nephrotic syndrome may have failure to thrive and frequent infections. Although more commonly seen in individuals of Finnish descent, congenital nephrotic syndrome Finnish type has been reported worldwide. Congenital nephrotic syndrome Finnish type is caused by mutations in the NPHS1 gene and is inherited in an autosomal recessive manner. At this time, kidney transplantation seems to be the only treatment available for this condition.[1][2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal renal tubule morphology
0000091
Delayed eruption of permanent teeth
Delayed eruption of adult teeth
0000696
Elevated amniotic fluid alpha-fetoprotein
0004639
Nephrotic syndrome
0000100
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Percent of people who have these symptoms is not available through HPO
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Autosomal recessive inheritance
0000007
Congenital nephrotic syndrome
0008677
Congenital onset
Symptoms present at birth
0003577
Diffuse mesangial sclerosis
0001967
Edema
Fluid retention
Water retention

[ more ]

0000969
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Glomerular sclerosis
0000096
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Hyperlipidemia
Elevated lipids in blood
0003077
Hypoalbuminemia
Low blood albumin
0003073
Hypoproteinemia
Decreased protein levels in blood
0003075
Hypothyroidism
Underactive thyroid
0000821
Neonatal respiratory distress
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal

[ more ]

0002643
Pyloric stenosis
0002021
Rapidly progressive
Worsening quickly
0003678
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection

[ more ]

0002719
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Renal tubular atrophy
0000092
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Congenital nephrotic syndrome Finnish type. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • The Merck Manual for health care professionals provides information on Congenital nephrotic syndrome Finnish type.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital nephrotic syndrome Finnish type. Click on the link to view a sample search on this topic.

          References

          1. Lee BH, Ahn YH, Choi HJ, Kang HK, Kim S, Cho B et al. Two Korean Infants with Genetically Confirmed Congenital Nephrotic Syndrome of Finnish Type. J Korean Med Sci. 2009; 24(Suppl 1):S210-4. https://jkms.org/Synapse/Data/PDFData/0063JKMS/jkms-24-S210.pdf.
          2. Lidvana Spahiu, Besart Merovci, Haki Jashari, Arbnore Batalli Këpuska, Blerta Elezi Rugova. Congenital Nephrotic Syndrome – Finish Type. Med Arch. June 2016; 70(3):232-234. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010061/.
          3. Niaudet, P. Congenital nephrotic syndrome, Finnish type. Orphanet. February 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839. Accessed 12/6/2016.