Neonatal acute respiratory distress syndrome due to SP-B deficiency
Synonyms: Neonatal acute respiratory distress due to surfactant protein B deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic interstitial lung disease characterized by progressive and life-threatening refractory respiratory distress caused by surfactant deficiency which is particularly prevalent in immature lungs. It is primarily observed in preterm infants but can also affect full-term neonates. In most cases, it is fatal within the first months of life. Lung biopsy reveals changes that are characteristic of pulmonary alveolar proteinosis including interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal acute respiratory distress syndrome due to SP-B deficiency | Neonatal acute respiratory distress due to surfactant protein B deficiency |
| fr | Syndrome de détresse respiratoire aiguë néonatale par déficit en SP-B | Détresse respiratoire aiguë néonatale par déficit en protéine B du surfactant |
| de | Neonatales akutes Atemnotsyndrom durch Surfactant-Protein B-Defizienz | Akute neonatale Atemnot durch SP-B-Defizienz |
| es | Síndrome de dificultad respiratoria aguda neonatal por deficiencia de SP-B | Dificultad respiratoria aguda neonatal por deficiencia de proteína surfactante B |
| it | Sindrome da distress respiratorio neonatale acuto da deficit di SP-B | Distress respiratorio acuto neonatale con deficit della proteina B del surfattante |
| nl | Neonataal 'acute respiratory distress'-syndroom door SP-B-deficiëntie | Neonataal 'acute respiratory distress'-syndroom door deficiëntie van surfactantproteïne B · Neonataal acuut respiratoir distress syndroom door SP-B-deficiëntie · Neonataal 'acute respiratory distress syndrome' door SP-B-deficiëntie · Neonataal ARDS door SP-B-deficiëntie |
| pt | Dificuldade respiratória aguda neonatal por deficiência de SP-B | Dificuldade respiratória aguda neonatal por deficiência no metabolismo do surfactante |
| pl | Zespół ostrej niewydolności oddechowej noworodków | Ostra niewydolność oddechowa noworodków spowodowanan niedoborem białka B surfaktantu |
| cs | Syndrom akutní dechové tísně novorozenců způsobený deficitem SP-B | Syndrom akutní dechové tísně novorozenců způsobený deficitem surfaktantového proteinu B |
| uk | Гострий респіраторний дистрес у новонароджених внаслідок дефіциту SP-B | Гострий респіраторний дистрес у новонароджених внаслідок дефіциту сурфактантного протеїну В |
| zh | SP-B缺陷所致新生儿急性呼吸窘迫 | 表面活化蛋白B缺陷所致新生儿急性呼吸窘迫 |
| tr | SP-B eksikliğine bağlı Yenidoğan akut solunum sıkıntısı | Sürfaktan protein B eksikliğine bağlı yenidoğan akut solunum sıkıntısı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265120 | BTNT | validated | |
| ICD-10 | P28.0 | NTBT | index | validated |
| ICD-11 | CB04.2 | NTBT | index | validated |
| MONDO | 0009929 | E | validated | |
| MeSH | C566882 | E | validated | |
| UMLS | C1968602 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:100049Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
rare genetic diseases; rare respiratory diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SFTPB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10801 | ENSG00000168878 | 178640 | 2p11.2 | surfactant protein B | 23330012[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | 0.067 / 100 000 | Worldwide | Value and class | Validated | 14977415[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2019-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0006517 | Intraalveolar phospholipid accumulation | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0002789 | Tachypnea | |
| Frequent (79-30%) | ||
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0031457 | Pulmonary opacity | |
| Occasional (29-5%) | ||
| HP:0006528 | Chronic lung disease | |
| HP:0006515 | Interstitial pneumonitis | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0004876 | Spontaneous neonatal pneumothorax | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 10960490[PMID]_12784301[PMID]_17391469[PMID]_19220077[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217563
- This record as JSON: /data/d/217563.json