# Agenesia renal

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

## Identificadores

- **ORPHA**: 411709 — https://www.orpha.net/en/disease/detail/411709
- **CID-10**: Q60.2
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Agenesia renal (AR) é uma forma de malformação do trato renal caracterizada pela completa ausência de desenvolvimento de um ou ambos os rins (AR unilateral ou AR bilateral respectivamente), acompanhada de ausência(s) de ureter(es).

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal dominant, Autosomal recessive

## Sinais e sintomas (44 fenótipos HPO)

- **Aplasia/Hipoplasia da bexiga** — HPO: HP:0010476 (Ocasional (29-5%))
- **Agenesia renal unilateral** — HPO: HP:0000122 (Frequente (79-30%))
- **Aplasia/Hipoplasia do útero** — HPO: HP:0008684 (Ocasional (29-5%))
- **Defeito do septo ventricular** — HPO: HP:0001629 (Ocasional (29-5%))
- **Oligodramnia** — HPO: HP:0001562 (Ocasional (29-5%))
- **Atresia anal** — HPO: HP:0002023 (Ocasional (29-5%))
- **Agenesia ureteral** — HPO: HP:0012300 (Frequente (79-30%))
- **Proteinúria** — HPO: HP:0000093 (Ocasional (29-5%))
- **Hipertensão** — HPO: HP:0000822 (Ocasional (29-5%))
- **Ducto deferente ausente** — HPO: HP:0012873 (Ocasional (29-5%))
- **Hipoplasia pulmonar** — HPO: HP:0002089 (Ocasional (29-5%))
- **Pé torto equinovaro** — HPO: HP:0001762 (Ocasional (29-5%))
- **Agenesia renal** — HPO: HP:0000104
- **Fácies de Potter** — HPO: HP:0002009 (Ocasional (29-5%))
- **Insuficiência renal** — HPO: HP:0000083 (Ocasional (29-5%))
- **Agenesia renal bilateral** — HPO: HP:0010958 (Ocasional (29-5%))
- **Hidronefrose** — HPO: HP:0000126
- **Rim em ferradura** — HPO: HP:0000085
- **Displasia renal multicística** — HPO: HP:0000003
- **Refluxo vesicoureteral** — HPO: HP:0000076
- **Displasia renal** — HPO: HP:0000110
- **Anormalidade do útero** — HPO: HP:0000130
- **Pele redundante** — HPO: HP:0001582
- **Anidrâmnio** — HPO: HP:0025700
- **Insuficiência respiratória** — HPO: HP:0002878
- **Retrognatia** — HPO: HP:0000278
- **Hipertelorismo** — HPO: HP:0000316
- **Orelhas de implantação baixa** — HPO: HP:0000369
- **Atresia vaginal** — HPO: HP:0000148
- **Útero bicorno** — HPO: HP:0000813
- **Amenorreia primária** — HPO: HP:0000786
- **Fissura palatina** — HPO: HP:0000175
- **Sirenomelia** — HPO: HP:0010497
- **Fenda não mediana do lábio superior** — HPO: HP:0100335
- **Dorso nasal deprimido** — HPO: HP:0000457
- **Hipoglicemia não cetótica** — HPO: HP:0001958
- **Poliúria fetal** — HPO: HP:0001563
- **Morfologia anormal do intestino** — HPO: HP:0002242
- **Fístula traqueoesofágica** — HPO: HP:0002575
- **Morfologia sacral anormal** — HPO: HP:0005107
- _...e mais 4 sintomas. Ver https://raras.org/doenca/agenesia-renal._

## Genes associados (12)

- **FREM1** — FRAS1-related extracellular matrix protein 1 [Candidate gene tested in]
  - Função: Extracellular matrix protein that plays a role in epidermal differentiation and is required for epidermal adhesion during embryonic development
- **UPK3A** — Uroplakin-3a [Candidate gene tested in]
  - Função: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction i
- **WNT9B** — Protein Wnt-9b [Candidate gene tested in]
  - Função: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal embryonic kidney development,
- **FRAS1** — Extracellular matrix organizing protein FRAS1 [Candidate gene tested in]
  - Função: Involved in extracellular matrix organization (By similarity). Required for the regulation of epidermal-basement membrane adhesion responsible for proper organogenesis during embryonic development (By
- **FREM2** — FRAS1-related extracellular matrix protein 2 [Candidate gene tested in]
  - Função: Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507
- **BMP4** — Bone morphogenetic protein 4 [Candidate gene tested in]
  - Função: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Act
- **GFRA1** — GDNF family receptor alpha-1 [Disease-causing germline mutation(s) in]
  - Função: Coreceptor for GDNF, a neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:10829012, PubMed:3
- **ITGA8** — Integrin alpha-8 [Disease-causing germline mutation(s) in]
  - Função: Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D
- **GREB1L** — GREB1-like protein [Disease-causing germline mutation(s) in]
  - Função: Plays a major role in early metanephros and genital development
- **FGF20** — Fibroblast growth factor 20 [Disease-causing germline mutation(s) in]
  - Função: Neurotrophic factor that regulates central nervous development and function
- **RET** — Proto-oncogene tyrosine-protein kinase receptor Ret [Candidate gene tested in]
  - Função: Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-deri
- **DSTYK** — Dual serine/threonine and tyrosine protein kinase [Candidate gene tested in]
  - Função: Acts as a positive regulator of ERK phosphorylation downstream of fibroblast growth factor-receptor activation (PubMed:23862974, PubMed:28157540). Involved in the regulation of both caspase-dependent

## Ensaios clínicos ativos (3)

- **NCT03723564** [RECRUITING]: Serial Amnioinfusions as Regenerative Therapy for Pulmonary Hypoplasia — https://clinicaltrials.gov/study/NCT03723564
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT06728228** [RECRUITING]: Amnioinfusion for Fetal Renal Failure — https://clinicaltrials.gov/study/NCT06728228

## Doenças relacionadas (por similaridade fenotípica)

- [Síndrome Meckel](https://raras.org/doenca/sindrome-meckel) — ORPHA:564 — 20 sintomas em comum
- [Agenesia renal, bilateral](https://raras.org/doenca/agenesia-renal-bilateral) — ORPHA:1848 — 18 sintomas em comum
- [Malformação do trato urogenital](https://raras.org/doenca/malformacao-do-trato-urogenital) — ORPHA:83001 — 16 sintomas em comum
- [Monossomia parcial do braço curto do cromossomo 10](https://raras.org/doenca/monossomia-parcial-do-braco-curto-do-cromossomo-10) — ORPHA:261938 — 14 sintomas em comum
- [Associação VACTERL/VATER](https://raras.org/doenca/associacao-vacterlvater) — ORPHA:887 — 14 sintomas em comum
- [Criptoftalmia](https://raras.org/doenca/criptoftalmia) — ORPHA:98562 — 14 sintomas em comum
- [Síndrome Fraser](https://raras.org/doenca/sindrome-fraser) — ORPHA:2052 — 14 sintomas em comum
- [Defeito do tubo neural](https://raras.org/doenca/defeito-do-tubo-neural) — ORPHA:3388 — 14 sintomas em comum
- [Pallister-Hall syndrome](https://raras.org/doenca/pallister-hall-syndrome) — ORPHA:672 — 13 sintomas em comum
- [Síndrome CHARGE](https://raras.org/doenca/sindrome-charge) — ORPHA:138 — 13 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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**Citação sugerida**: Raras.org — Agenesia renal. Disponível em: https://raras.org/doenca/agenesia-renal
**Formato HTML**: https://raras.org/doenca/agenesia-renal
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=411709