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CASE REPORT Table of Contents  
Ahead of print publication
Chronic interstitial nephritis in an adult with split-hand/split-foot malformation: A rare case report


 Department of Nephrology, Institute of Nephro Urology (Government of Karnataka), Bengaluru, Karnataka, India

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Date of Submission28-Oct-2021
Date of Decision18-Nov-2021
Date of Acceptance23-Nov-2021
Date of Web Publication23-Feb-2022
 

  Abstract 


Split-hand/split-foot malformation (SHFM) is a rare congenital disorder arising due to the absence of one or more central digits of the hand or feet or both. Here, we describe a case of a 60-year-old gentleman with familial SHFM associated with a solitary mid pole cyst in the left kidney on imaging and chronic interstitial nephritis in renal biopsy.

Keywords: Chronic interstitial nephritis, genetic, split hand, split foot


How to cite this URL:
Shankar M, Nayaka M, Aralapuram K, Gurusiddaiah SC. Chronic interstitial nephritis in an adult with split-hand/split-foot malformation: A rare case report. APIK J Int Med [Epub ahead of print] [cited 2022 Sep 25]. Available from: https://www.ajim.in/preprintarticle.asp?id=338148





  Introduction Top


Ectrodactyly is also known as split-hand/split-foot malformation (SHFM). It is classified under rare genetic disorder. Ectrodactyly is a condition in which a part or most of the central digits are missing. Affected individuals can have varied presentations.[1] They can occur as part of several syndromes or in isolation. The two syndromes associated with ectrodactyly are acrorenal syndrome and ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.[2] After extensive literature search, few renal anomalies have been described with ectrodactyly. These include duplication anomalies, renal agenesis, and bilateral renal hypoplasia.[2],[3] Here, we present a case of ectrodactyly, cystic kidney disease, chronic interstitial nephritis (CIN), severe metabolic acidosis, iron deficiency anemia, and secondary hyperparathyroidism causing mineral bone disease.


  Case Report Top


A 60-year-old gentleman, shopkeeper by occupation, presented with symptoms of insidious onset, gradually progressive swelling of both lower limbs since 2 months, dyspnea on exertion and fatigue since 2 weeks, and reduced urine output since 3 days. He was recently detected to be hypertensive. He was the fourth born child of a nonconsanguineous marriage. All male members of the family were affected with ectrodactyly. This included his father, his brother, and his son but none had renal involvement [Figure 1] below – pedigree chart of index case]. There was no significant past history of any recurrent urinary tract infections, exposure to drugs, toxins, and radiation.
Figure 1: Pedigree chart of the index case

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On general examination, he had pallor, bilateral lower limb edema, and tachypnea. Extremity examination revealed a deep cleft in the center of hands and feet along with fusion of the remaining digits [Figure 2],[Figure 3],[Figure 4],[Figure 5]. Respiratory system examination revealed bilaterally reduced breath sounds at the base of the lungs. Other systemic examinations were unremarkable.
Figure 2: Ectrodactyly: Hands

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Figure 3: Foot of the patient

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Figure 4: X-ray of the hands

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Figure 5: X-ray of the foot

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Lab investigations showed 7.8 g%, serum creatinine of 9.5 mg/dl, S. bicarbonate of 2.9 meq/L, transferrin saturation of 24.43%, and S. iron of 54 mcg/dl. Peripheral smear was suggestive of microcytic hypochromic anemia. Serum calcium 7.5 mg/dl, S. phosphorous of 6.68 mg/dl, and iPTH of 336.8 ng/L. His 24 h urine output was only 200 ml, and his urine examination was bland with trace proteinuria on dipstick.

Ultrasonography showed that the right kidney measured 8.1 cm and the left kidney measured 8.9 cm with Grade II medical renal disease. A solitary cyst in the mid pole of the left kidney was noted, which was confirmed on plain computed tomography of the kidneys, ureters, and bladder with the cyst measuring 8.5 mm × 8.3 mm in size [Figure 6].
Figure 6: Cyst is the mid pole of the left kidney

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He was initiated on hemodialysis through temporary hemodialysis catheter. His hemoglobin was optimized to 10 g% with packed red blood cell transfusion. After three sessions of hemodialysis, a renal biopsy was performed. Multiple serial sections showed eight glomeruli, of which seven were obsolescent. One viable glomerulus was in the range of normal. There was a severe degree of interstitial fibrosis and tubular atrophy involving >50% of the cortex with lymphomononuclear interstitial inflammation, which was suggestive of CIN [Figure 7]. A diagnosis of end-stage renal disease due to CIN was made, and he was continued on maintenance hemodialysis. Calcium supplements and phosphate binders were added. Genetic analysis was suggestive of SHFM3 located in 10q24 (OMIM 246560) mutation.
Figure 7: Light microscopy (H and E, stain ×40 view): Chronic interstitial nephritis

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  Discussion Top


SHFM is a rare congenital malformation with an incidence of 1 in 90,000 live births.[4] This is the first case report of acrorenal syndrome in the form of SHFM and CIN in the world.

SHFM occurs due to the lack of formation of certain parts (mostly central parts) of the hand or feet or both due to variable deficiencies of the central rays of the autopad.[5] Both familial and sporadic presentations have been described. It is usually inherited as an autosomal dominant trait.[6],[7] In our patient, there was significant family history with all male members of the family across three generations being affected with ectrodactyly-his father, only brother, and son. However, none of them had involvement of the kidneys except this patient. This patient presented with a solitary cyst in the mid pole of the left kidney and CIN on biopsy. There are case reports of ectrodactyly associated with duplication, renal agenesis, bilateral renal hypoplasia, and left-sided multicystic renal dysplasia.[3],[8] On the other hand, ectrodactyly and CIN may both be coincidental and may not have a real association. However, common causes of CIN such as infections, exposure to drugs, toxins, or radiation were ruled out in this patient.

EEC should be considered as one of the differential diagnoses. Here, ectrodactyly is associated with cleft lip/palate, lacrimal duct atresia, and ectodermal defects of the hair, skin, nails, and teeth.[9] In this patient, there was no evidence of ectodermal defects.

In Adams-Oliver syndrome, ectrodactyly is associated with defects in the scalp and calvarium.[4] This patient did not have any such defects.

SHFM does not cause any functional limitation but is a psychosocial problem. Appropriate surgical treatment at appropriate ages can be performed.

In conclusion, our case reports an adult with familial SHFM and CIN with a solitary mid pole cyst in the left kidney. To the best of our knowledge, this is the first case reported in the world with such an association. Whether the association is causal or coincidental is debatable.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 2003;12:R51-60.  Back to cited text no. 1
    
2.
Haberlandt E, Löffler J, Hirst-Stadlmann A, Stöckl B, Judmaier W, Fischer H, et al. Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. J Med Genet 2001;38:405-9.  Back to cited text no. 2
    
3.
Zeier M, Tariverdian G, Waldherr R, Andrassy K, Ritz E. Acrorenal syndrome in an adult – Presentation with proteinuria, hypertension, and glomerular lesions. Am J Kidney Dis 1989;14:221-4.  Back to cited text no. 3
    
4.
Barsky AJ. Cleft hand: Classification, incidence, and treatment. Review of the literature and report of nineteen cases. J Bone Joint Surg Am 1964;46:1707-20.  Back to cited text no. 4
    
5.
Reed MH, Genez B. Hands. In: Reed MH, editor. Pediatric Skeletal Radiology. Baltimore: Williams and Wilkins; 1992. p. 584-625.  Back to cited text no. 5
    
6.
Parkash H, Grewal MS, Sidhu SS. Ectrodactyly, ectodermal dysplasia, cleft lip and palate (EEC) – A rare syndrome. Indian J Pediatr 1983;50:337-40.  Back to cited text no. 6
    
7.
Hoyme HE, Jones KL, Nyhan WL, Pauli RM, Robinow M. Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: Further clinical delineation. J Pediatr 1987;111:538-43.  Back to cited text no. 7
    
8.
Akgün C, Akbayram S, Başaranoğlu M, Aktar F, Temel H, Arslan Ş.Multicystic renal dysplasia in a child with split hand/split foot malformation. Eur J Gen Med 2012;9 Suppl 1:30-2.  Back to cited text no. 8
    
9.
Blauth W, Borisch NC. Cleft feet. Proposals for a new classification based on roentgenographic morphology. Clin Orthop Relat Res 1990;41-8. PMID: 2394058.  Back to cited text no. 9
    

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Correspondence Address:
Mythri Shankar,
Department of Nephrology, Institute of Nephro Urology, (Government of Karnataka), Victoria Hospital Campus, Bengaluru, Karnataka
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ajim.ajim_117_21



    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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