A good clinical examination clinched the diagnosis : an invasive investigation was cancelled !

Clinical scenario:

                A 35-year-old female presented with history of  off and on pedal edema of 12 years duration . She also complained of  pain in the small joints of hands but denied any morning stiffness or limitation of movements 

The patient is a non-diabetic, normotensive lady with no co morbid illness 

              She  had delivered three full term babies. However each of her pregnancy was complicated by increase in her pedal edema, but she never had pregnancy induced hypertension or pre-eclampsia. Records showed that the range of proteinuria during her pregnancy remained 1.4 g to 2.9 g in 24 hr urinary collection. She had been managed in a local hospital and was advised  kidney biopsy for evaluation of  Nephrotic range proteinuria which she never consented to.

• Clinical examination: The examination in our clinic showed an obese lady (BMI was 31 kg/m²) with stable vitals. There was no pallor or lymphadenopathy. 
• She had  bilateral pedal edema which was pitting in nature. The musculoskeletal examination showed dystrophic nails (Figure 1 ).No joint was swollen and range of motion in all her joints  was normal .

Fig 1 Dystrophic nails  

          There was no malar rash .With regard to her nail changes a dermatological consultation was sought and possibilities of Lichen planus, psoriasis and eczema were ruled out .

 Evaluation :She had hemoglobin of 13 g/dl, white blood count (WBC) and platelets were within normal range. Her liver function and kidney function tests were normal. A 24 hr urine collection showed albumin of 4 g/L.

Her anti-nuclear antibody (ANA) and double stranded DNA levels were negative .

She had negative rheumatoid factor. She was euthyroid and her lipid profile was also normal.

Serum and urine electrophoresis showed no abnormality. The ultrasound abdomen showed normal size of both kidneys with maintained corticomedullary differentiation.

 Keeping in view her long duration of pedal edema due to nephrotic range proteinuria, the characteristic dystrophic nail changes, an X-ray of knees was done which demonstrated the absence of bilateral patella (Figure 2) and the diagnosis of  Nail Patella syndrome (NPS) was made . Consequently her siblings were screened for NPS as well. All her children showed classical features of NPS as shown in (Figure 3)

Fig 2 Bilateral absence of patella 

        .

Hence a diagnosis of NPS was made on clinical grounds and kidney biopsy was cancelled. Generally kidney biopsy is discouraged in this syndrome as there seems no clear relationship between renal pathology of NPS and it s clinical behavior. The natural history of NPS shows that progressive kidney disease affects a small minority of patients with NPS: 

        

Fig 3 Family screening No patella , dystrophic nails 

 Management :  

            She was started on  Tab. Enalpril 5 mg once daily. She was also advised weight reduction and regular exercise. She has been doing well with an improvement in her albuminuria and is regularly attending our clinic for the last 2 years now.

Message :

            Good clinical examination is very important in any clinical setting  and in this case it averted the need of an invasive procedure : the Kidney biopsy . 

             Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. 

 Although diagnosis can be made at birth, it is often missed, presumably due to the rarity of the condition. 

Further reading :  Arthropathy and proteinuria: nail-patella syndrome revisited

Contributed by :

Dr Jamal Al-Bishri .M.D.

Consultant Rheumatologist 

Associate Professor College of Medicine 
 Taif University 

Taif Saudi Arabia