Information on RENI
Basic details
Name: RENI syndrome | Acronym: RENI
Alt. names: SGPL1 deficiency | Nephrotic syndrome 14
Gene: SGPL1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2017
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
Description
It is a steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS), resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder may include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency (with low B and T cells), and neurologic defects. In rare cases, patients present with isolated primary adrenal insufficiency [source:OMIM]
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Hyperpigmentation of the skin |
8 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Infantile onset |
6 (75.0%) | 0 (0.0%) | 2 (25.0%) |
| 3 | Stage 5 chronic kidney disease |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 4 | Steroid-resistant nephrotic syndrome |
5 (62.5%) | 0 (0.0%) | 3 (37.5%) |
| 5 | Hypothyroidism |
4 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Ichthyosis |
4 (80.0%) | 0 (0.0%) | 1 (20.0%) |
| 7 | Global developmental delay |
3 (37.5%) | 0 (0.0%) | 5 (62.5%) |
| 8 | Ataxia |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 9 | Focal segmental glomerulosclerosis |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 10 | Lymphopenia |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 11 | Mesangial hypercellularity |
2 (50.0%) | 0 (0.0%) | 2 (50.0%) |
| 12 | Sensorineural hearing impairment |
2 (25.0%) | 0 (0.0%) | 6 (75.0%) |
| 13 | Childhood onset |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 14 | Developmental regression |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
| 15 | Juvenile onset |
1 (12.5%) | 0 (0.0%) | 7 (87.5%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.