# Doença renal cística genética

> Página oficial: https://raras.org/doenca/doenca-renal-cistica-genetica
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 93587 — https://www.orpha.net/en/disease/detail/93587
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um caso de doença renal cística causada por uma modificação herdada do genoma do indivíduo.

## Epidemiologia e herança


## Sinais e sintomas (128 fenótipos HPO)

- **Hematêmese** — HPO: HP:0002248
- **Comprometimento cognitivo** — HPO: HP:0100543
- **Anormalidade dos membros** — HPO: HP:0040064
- **Colangiocarcinoma** — HPO: HP:0030153
- **Baixos níveis de vitamina E** — HPO: HP:0100513
- **Pneumotórax espontâneo** — HPO: HP:0002108
- **Dorso nasal deprimido** — HPO: HP:0000457
- **Orelhas de implantação baixa** — HPO: HP:0000369
- **Pneumonia recorrente** — HPO: HP:0006532
- **Hipoventilação** — HPO: HP:0002791
- **Anormalidade do ducto biliar intra-hepático** — HPO: HP:0011040
- **Hiperplasia biliar** — HPO: HP:0006560
- **Hiponatremia** — HPO: HP:0002902
- **Insuficiência respiratória** — HPO: HP:0002878
- **Má absorção de gordura** — HPO: HP:0002630
- **Fibrose hepática congênita** — HPO: HP:0002612
- **Colestase** — HPO: HP:0001396
- **Micrognatia** — HPO: HP:0000347
- **Oligúria** — HPO: HP:0100520
- **Colangite** — HPO: HP:0030151
- **Hepatoblastoma** — HPO: HP:0002884
- **Enteropatia com perda proteica** — HPO: HP:0002243
- **Hemorragia gastrointestinal** — HPO: HP:0002239
- **Lesão renal aguda** — HPO: HP:0001919
- **Trombocitopenia** — HPO: HP:0001873
- **Ascite** — HPO: HP:0001541
- **Baixos níveis de vitamina D** — HPO: HP:0100512
- **Aumento da concentração sérica de ácidos biliares** — HPO: HP:0012202
- **Dificuldades alimentares** — HPO: HP:0011968
- **Baixos níveis de vitamina K** — HPO: HP:0011892
- **Baixos níveis de vitamina A** — HPO: HP:0004905
- **Hiperesplenismo** — HPO: HP:0001971
- **Atraso de crescimento** — HPO: HP:0001510
- **Polidipsia** — HPO: HP:0001959
- **Nefronoptise** — HPO: HP:0000090
- **Glomeruloesclerose segmentar focal** — HPO: HP:0000097
- **Aumento da ureia nitrogenada no sangue** — HPO: HP:0003138
- **Espessamento da membrana basal glomerular** — HPO: HP:0004722
- **Doença renal crônica estágio 3** — HPO: HP:0012625
- **Doença renal crônica estágio 2** — HPO: HP:0012624
- _...e mais 88 sintomas. Ver https://raras.org/doenca/doenca-renal-cistica-genetica._

## Genes associados (14)

- **DNAJB11** — DnaJ homolog subfamily B member 11 [Disease-causing germline mutation(s) in]
  - Função: As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins (PubMed:10827079, PubMed:15525676, PubMed:29706351). Binds directly to both unfolded proteins that
- **ALG9** — Alpha-1,2-mannosyltransferase ALG9 [Candidate gene tested in]
  - Função: Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-link
- **IFT140** — Intraflagellar transport protein 140 homolog [Candidate gene tested in]
  - Função: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633). Plays a pivo
- **BICC1** — Protein bicaudal C homolog 1 [Candidate gene tested in]
  - Função: Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating gene expression during embryonic development
- **TSC2** — Tuberin [Candidate gene tested in]
  - Função: Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulate
- **UMOD** — Uromodulin [Disease-causing germline mutation(s) in]
  - Função: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like stru
- **NEK8** — Serine/threonine-protein kinase Nek8 [Disease-causing germline mutation(s) in]
  - Função: Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (PubMed:37
- **ALG5** — Dolichyl-phosphate beta-glucosyltransferase [Disease-causing germline mutation(s) in]
  - Função: Dolichyl-phosphate beta-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The a
- **DZIP1L** — Cilium assembly protein DZIP1L [Disease-causing germline mutation(s) in]
  - Função: Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:2
- **PKHD1** — Fibrocystin [Disease-causing germline mutation(s) in]
  - Função: Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has
- **GANAB** — Neutral alpha-glucosidase AB [Disease-causing germline mutation(s) in]
  - Função: Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubM
- **MUC1** — Mucin-1 [Disease-causing germline mutation(s) in]
  - Função: The alpha subunit has cell adhesive properties. Can act both as an adhesion and an anti-adhesion protein. May provide a protective layer on epithelial cells against bacterial and enzyme attack The bet
- **PKD2** — Polycystin-2 [Disease-causing germline mutation(s) in]
  - Função: Forms a nonselective cation channel (PubMed:11854751, PubMed:11991947, PubMed:15692563, PubMed:26269590, PubMed:27071085, PubMed:31441214, PubMed:39009345). Can function as a homotetrameric ion channe
- **PKD1** — Polycystin-1 [Disease-causing germline mutation(s) in]
  - Função: Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B (PubMed:27214281). Both

## Medicamentos em desenvolvimento (5)

- TOLVAPTAN — Fase Phase 4 (Vasopressin V2 receptor antagonist)
- TELMISARTAN — Fase Phase 3 (Type-1 angiotensin II receptor antagonist)
- LISINOPRIL ANHYDROUS — Fase Phase 3 (Angiotensin-converting enzyme inhibitor)
- LANREOTIDE — Fase Phase 3 (Somatostatin receptor 5 agonist)
- METFORMIN — Fase Phase 3 (Mitochondrial complex I (NADH dehydrogenase) inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0019741

## Ensaios clínicos ativos (5)

- **NCT06594367** [COMPLETED]: A Possible Founding PKD2 Mutation Associated With Variable Phenotypes of ADPKD in Bergamo Province — https://clinicaltrials.gov/study/NCT06594367
- **NCT05996731** [RECRUITING]: Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases — https://clinicaltrials.gov/study/NCT05996731
- **NCT07161037** [RECRUITING]: Phase 2a Study of VX-407 in Participants With ADPKD Who Have a Subset of PKD1 Gene Variants (AGLOW) — https://clinicaltrials.gov/study/NCT07161037
- **NCT00368446** [COMPLETED]: Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease — https://clinicaltrials.gov/study/NCT00368446
- **NCT07470177** [NOT_YET_RECRUITING]: A Study to Investigate the Effects of JMKX003142 on QTc Interval in Healthy Adults — https://clinicaltrials.gov/study/NCT07470177

## Doenças relacionadas (por similaridade fenotípica)

- [Doença renal policística autossômica recessiva](https://raras.org/doenca/doenca-renal-policistica-autossomica-recessiva) — ORPHA:731 — 61 sintomas em comum
- [Doença renal policística autossômica dominante](https://raras.org/doenca/doenca-renal-policistica-autossomica-dominante) — ORPHA:730 — 52 sintomas em comum
- [Doença renal túbulo-intersticial autossômica dominante](https://raras.org/doenca/doenca-renal-tubulo-intersticial-autossomica-dominante) — ORPHA:34149 — 41 sintomas em comum
- [Nefronoptise](https://raras.org/doenca/nefronoptise) — ORPHA:655 — 39 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 37 sintomas em comum
- [Doença renal túbulo-intersticial autossômica dominante UMOD-relacionada](https://raras.org/doenca/doenca-renal-tubulo-intersticial-autossomica-dominante-umod-relacionada) — ORPHA:88950 — 33 sintomas em comum
- [Colestase intra-hepática progressiva familiar](https://raras.org/doenca/colestase-intra-hepatica-progressiva-familiar) — ORPHA:172 — 30 sintomas em comum
- [Colestase intra-hepática familiar](https://raras.org/doenca/colestase-intra-hepatica-familiar) — ORPHA:284385 — 30 sintomas em comum
- [Síndrome Senior-Boichis](https://raras.org/doenca/sindrome-senior-boichis) — ORPHA:84081 — 24 sintomas em comum
- [Deficiência de lipase ácida lisossomal](https://raras.org/doenca/deficiencia-de-lipase-acida-lisossomal) — ORPHA:275761 — 22 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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