Autosomal dominant tubulointerstitial kidney disease
Description
● Introduction
➣ ADTKD (autosomal dominant tubulointerstitial kidney disease)
➣ Features: gout, arthritis, hyperuricemia, progressive renal failure, and occasionally end-stage renal disease (ESRD) after 10–20 years
➣ Pathology: renal cysts, tubular atrophy, and interstitial fibrosis.
➣Genetics: About 40% of patients have UMOD mutations.
• Additional mutations: HNF1β, REN.
➣ UMOD mutations result in gout and hyperuricemia due to misfolded uromodulin and impaired sodium/urate handling.
●Vital signs are normal.
➣Results: interphalangeal deformities, gout stones, joint swelling, and nodules behind the ear.
●Examining
➣Test results:
→BUN: 50.5 mg/dL
→Creatinine level: 6.2 mg/dL. ↑
→ 13.2 mg/dL uric acid
→Low excretion of fractional urate (3.43%).
➣Imaging:
→Multiple cysts and atrophic kidneys (ultrasound).
→ Knee CT: oedema, constriction of the joint, and urate crystal deposits.
➣ Genetic test: c.554G>T (p.Arg185Leu), a new heterozygous mutation in UMOD exon 3.
→ Found in a cousin, aunt, daughter, and proband.
→uromodulin protein misfolded as a result.
● ADTKD-UMOD is the final diagnosis because of a new missense mutation (p.Arg185Leu).
● Treatment & Outcome
•Uric acid-lowering medications were used, however the results were unsuccessful.
• GFR dropped to 1.73 m²/6.3 mL/min.
• Surgery to repair an arteriovenous fistula is scheduled for haemodialysis.
•Recommendations for family members include uric acid-lowering drugs and lifestyle modifications.
•Result: gout under control, patient receiving dialysis.
●Presentation of the Case
➣ 40-year-old guy is the prostitute.Symptoms include renal impairment, deformities, gout stones, and severe gout (metatarsal joints).
➣ History: 15 years prior, gout was identified.
➣Family history includes a daughter (9 years old) with hyperuricemia and other relatives with gout, CKD, and ESRD who passed away while receiving dialysis between the ages of 30 and 50.
Protocol
●Issues with Nursing Interventions
When providing patient care, nurses face a variety of challenges, such as: ➣Difficulties with assessment: Assessing patients' requirements, particularly for chronic or complex diseases, necessitates thorough data collection, which may be constrained by patients' communication skills or inadequate records.
➣ Risk identification: Nurses need to correctly identify the risk factors for complications, which might be made more difficult by comorbid diseases or overlapping symptoms.
➣Barriers to implementation: Lack of interprofessional assistance, time restrictions, and resource limits can all reduce the efficacy of nursing treatments.
●Extensive Management Strategies
➣Nursing professionals use the following specific strategies to tackle these issues:
➣The Nursing Process in Structure
•Assessment: Gathering detailed information on the patient's mental, social, and physical well-being, including opinions from the patient, their family, and other medical specialists.
• Planning: Targeted and practical interventions are ensured by cooperative goal-setting with patients and healthcare teams.
➣ Nursing Intervention Types
• Independent: Without explicit directions, nurses use their discretion to oversee continuing care, offer emotional support, educate, and keep an eye on patients.
•Dependent: Activities carried out as directed by a doctor, such as giving medicine or treatment.
• Collaborative: Interventions that target multifaceted needs and are carried out in conjunction with physicians, therapists, nutritionists, or social workers.
➣Handling Particular Situations
• Pain management: using non-pharmacological techniques (education, physical therapy, relaxation) as well as pharmaceutical ones (NSAIDs, opioids).
•Managing chronic diseases: Promoting and tracking lifestyle modifications, medication compliance, patient education, and early problem identification (e.g., for diabetes, hypertension).
• Patient education: Encouraging health literacy and self-management by including patients and their families in care via instruction, mentoring, and effective communication.
• Monitoring: Constant evaluation of vital signs, symptoms, and recuperation to monitor development and modify therapies as necessary.
• Documentation: Sharing treatments and results with the medical staff to guarantee ongoing, safe care.
Notes
For more detail 10.12998/wjcc.v9.i33.10249
