# Doença renal policística autossômica dominante

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

## Identificadores

- **ORPHA**: 730 — https://www.orpha.net/en/disease/detail/730
- **CID-10**: Q61.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Forma autossômica dominante de doença renal policística.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Autosomal dominant

## Sinais e sintomas (52 fenótipos HPO)

- **Regurgitação mitral** — HPO: HP:0001653
- **Rins hiperecogênicos** — HPO: HP:0004719
- **Polidipsia** — HPO: HP:0001959
- **Nefronoptise** — HPO: HP:0000090
- **Glomeruloesclerose segmentar focal** — HPO: HP:0000097
- **Poliúria** — HPO: HP:0000103
- **Hipertrofia do ventrículo esquerdo** — HPO: HP:0001712
- **Baixa estatura** — HPO: HP:0004322
- **Fibrose intersticial renal** — HPO: HP:0032948
- **Atrofia renal** — HPO: HP:0012585
- **Aneurisma sacular cerebral** — HPO: HP:0007029
- **Doença renal crônica estágio 5** — HPO: HP:0003774 (Frequente (79-30%))
- **Cistos pancreáticos** — HPO: HP:0001737 (Ocasional (29-5%))
- **Cisto renal** — HPO: HP:0000107 (Muito frequente (99-80%))
- **Motilidade espermática reduzida** — HPO: HP:0012207 (Ocasional (29-5%))
- **Cisto aracnoide** — HPO: HP:0100702 (Ocasional (29-5%))
- **Dilatação da artéria cerebral** — HPO: HP:0004944 (Ocasional (29-5%))
- **Doença hepática policística** — HPO: HP:0006557 (Ocasional (29-5%))
- **Dor no flanco** — HPO: HP:0030157 (Frequente (79-30%))
- **Infecções do trato urinário recorrentes** — HPO: HP:0000010 (Ocasional (29-5%))
- **Hipertensão** — HPO: HP:0000822 (Frequente (79-30%))
- **Prolapso da valva mitral** — HPO: HP:0001634 (Ocasional (29-5%))
- **Pielonefrite** — HPO: HP:0012330 (Ocasional (29-5%))
- **Hematúria** — HPO: HP:0000790 (Frequente (79-30%))
- **Taxa de filtração glomerular diminuída** — HPO: HP:0012213 (Muito frequente (99-80%))
- **Concentração anormal de eletrólitos urinários** — HPO: HP:0012591 (Frequente (79-30%))
- **Nefrolitíase por ácido úrico** — HPO: HP:0000791 (Ocasional (29-5%))
- **Cistos hepáticos** — HPO: HP:0001407 (Muito frequente (99-80%))
- **Concentração elevada de creatinina circulante** — HPO: HP:0003259 (Muito frequente (99-80%))
- **Nefrolitíase por oxalato de cálcio** — HPO: HP:0008672 (Ocasional (29-5%))
- **Rim aumentado** — HPO: HP:0000105 (Ocasional (29-5%))
- **Albuminúria** — HPO: HP:0012592 (Frequente (79-30%))
- **Aneurisma da raiz da aorta** — HPO: HP:0002616 (Ocasional (29-5%))
- **Insuficiência renal** — HPO: HP:0000083 (Muito frequente (99-80%))
- **Doença renal crônica** — HPO: HP:0012622 (Frequente (79-30%))
- **Morfologia arterial sistêmica anormal** — HPO: HP:0011004 (Ocasional (29-5%))
- **Adenoma de células produtoras de hormônio do crescimento hipofisárias** — HPO: HP:0011760 (Raro (<5%))
- **Displasia renal policística** — HPO: HP:0000113
- **Nível elevado de gama-glutamiltransferase** — HPO: HP:0030948
- **Icterícia** — HPO: HP:0000952
- _...e mais 12 sintomas. Ver https://raras.org/doenca/doenca-renal-policistica-autossomica-dominante._

## Genes associados (9)

- **IFT140** — Intraflagellar transport protein 140 homolog [Disease-causing germline mutation(s) (loss of function) 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
- **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
- **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
- **ALG9** — Alpha-1,2-mannosyltransferase ALG9 [Disease-causing germline mutation(s) (loss of function) 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
- **DNAJB11** — DnaJ homolog subfamily B member 11 [Disease-causing germline mutation(s) (loss of function) 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
- **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
- **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
- **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
- **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

## Ensaios clínicos ativos (33)

- **NCT07535385** [RECRUITING]: RADIOLOGICAL AND CLINICAL EVALUATION OF RENAL EMBOLIZATION USING EVOH IN DIALYSIS PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE: A PROSPECTIVE LONGITUDINAL OBSERVATIONAL STUDY — https://clinicaltrials.gov/study/NCT07535385
- **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
- **NCT04939935** [RECRUITING]: Implementation of Metformin theraPy to Ease Decline of Kidney Function in Polycystic Kidney Disease (IMPEDE-PKD) — https://clinicaltrials.gov/study/NCT04939935
- **NCT05996731** [RECRUITING]: Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases — https://clinicaltrials.gov/study/NCT05996731
- **NCT07228364** [RECRUITING]: Safety, Tolerability and Pharmacokinetics of AZD1613 in Adults With Autosomal Dominant Polycystic Kidney Disease — https://clinicaltrials.gov/study/NCT07228364
- **NCT07454174** [RECRUITING]: Metabolic Impacts of Ren-Nu: A Dietary Program for Polycystic Kidney Disease — https://clinicaltrials.gov/study/NCT07454174
- **NCT06714006** [RECRUITING]: Phase 1 Study to Evaluate the Safety and Tolerability of Intravenously Administered PYC-003 — https://clinicaltrials.gov/study/NCT06714006
- **NCT06902558** [RECRUITING]: A Study to Assess Adverse Events and Effectiveness of IntraVenous Infusions of ABBV-CLS-628 in Adult Participants With Autosomal Dominant Polycystic Kidney Disease (ADPKD) — https://clinicaltrials.gov/study/NCT06902558
- **NCT04111692** [RECRUITING]: A Prospective Observational Study of Foam Sclerotherapy . — https://clinicaltrials.gov/study/NCT04111692
- **NCT04344769** [RECRUITING]: Characterization of the Nrf2 Response in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) — https://clinicaltrials.gov/study/NCT04344769

## Doenças relacionadas (por similaridade fenotípica)

- [Doença renal cística genética](https://raras.org/doenca/doenca-renal-cistica-genetica) — ORPHA:93587 — 52 sintomas em comum
- [Nefronoptise](https://raras.org/doenca/nefronoptise) — ORPHA:655 — 18 sintomas em comum
- [Doença renal policística autossômica recessiva](https://raras.org/doenca/doenca-renal-policistica-autossomica-recessiva) — ORPHA:731 — 14 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 14 sintomas em comum
- [Colestase intra-hepática familiar](https://raras.org/doenca/colestase-intra-hepatica-familiar) — ORPHA:284385 — 14 sintomas em comum
- [Colestase intra-hepática progressiva familiar](https://raras.org/doenca/colestase-intra-hepatica-progressiva-familiar) — ORPHA:172 — 14 sintomas em comum
- [Doença renal túbulo-intersticial autossômica dominante](https://raras.org/doenca/doenca-renal-tubulo-intersticial-autossomica-dominante) — ORPHA:34149 — 12 sintomas em comum
- [Síndrome MODY](https://raras.org/doenca/sindrome-mody) — ORPHA:552 — 12 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 — 12 sintomas em comum
- [Alteração do transporte de magnésio](https://raras.org/doenca/alteracao-do-transporte-de-magnesio) — ORPHA:309848 — 12 sintomas em comum

## Importante

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Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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